22 results on '"Malikic S"'
Search Results
2. The evolutionary history of 2,658 cancers
- Author
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Gerstung, M., Jolly, C., Leshchiner, I., Dentro, S.C., Gonzalez, S., Rosebrock, D., Mitchell, T.J., Rubanova, Y., Anur, P., Yu, K., Tarabichi, M., Deshwar, A.G., Wintersinger, J., Kleinheinz, K., Vázquez-García, I., Haase, K., Jerman, L., Sengupta, Subhajit, Macintyre, G., Malikic, S., Donmez, N., Livitz, D.G., Cmero, M., Demeulemeester, J., Schumacher, S., Fan, Y., Yao, X., Lee, J., Schlesner, M., Boutros, P.C., Bowtell, D.D., Zhu, H., Getz, G., Imielinski, M., Beroukhim, R., Sahinalp, S.C., Ji, Y., Peifer, M., Markowetz, F., Mustonen, V., Yuan, K., Wang, W., Morris, Q.D., Adams, D.J., Campbell, P.J., Cao, S., Christie, E.L., Cun, Y., Dawson, K.J., Drews, R.M., Eils, R., Fittall, M., Garsed, D.W., Ha, G., Lee-Six, H., Martincorena, I., Oesper, L., Peto, M., Raphael, B.J., Salcedo, A., Sengupta, S., Shi, R., Shin, S.J., Spiro, O., Stein, L.D., Vembu, S., Wheeler, D.A., Yang, T.-P., Spellman, P.T., Wedge, D.C., Van Loo, P., Apollo - University of Cambridge Repository, Organismal and Evolutionary Biology Research Programme, Helsinki Institute for Information Technology, Institute of Biotechnology, Bioinformatics, Department of Computer Science, Doctoral Programme in Computer Science, and Markowetz, Florian [0000-0002-2784-5308]
- Subjects
Genome instability ,SELECTION ,DNA Repair ,Gene Dosage ,PROGRESSION ,medicine.disease_cause ,Somatic evolution in cancer ,Genome ,0302 clinical medicine ,Neoplasms ,MUTATIONAL PROCESSES ,Cancer genomics ,2.1 Biological and endogenous factors ,Genes, Tumor Suppressor ,Aetiology ,Cancer ,Genetics ,0303 health sciences ,Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17] ,Multidisciplinary ,Manchester Cancer Research Centre ,WOMEN ,Neoplasms/genetics ,Women's cancers Radboud Institute for Health Sciences [Radboudumc 17] ,3. Good health ,030220 oncology & carcinogenesis ,SEX ,Tumor Suppressor ,Human ,SOMATIC MUTATION ,BRANCHED EVOLUTION ,Evolution ,General Science & Technology ,Isochromosome ,3122 Cancers ,Computational biology ,Biology ,BREAST ,Article ,Evolution, Molecular ,03 medical and health sciences ,DNA Repair/genetics ,Germline mutation ,Rare Diseases ,Molecular evolution ,Insertional ,medicine ,Humans ,ddc:610 ,PCAWG Evolution & Heterogeneity Working Group ,Gene ,030304 developmental biology ,LANDSCAPE ,Genome, Human ,ResearchInstitutes_Networks_Beacons/mcrc ,Point mutation ,Human Genome ,PCAWG Consortium ,Molecular ,Genetic Variation ,NATURAL-HISTORY ,medicine.disease ,Human genetics ,Computational biology and bioinformatics ,Brain Disorders ,Brain Cancer ,Mutagenesis, Insertional ,Genes ,Mutagenesis ,Genome, Human/genetics ,Human genome ,Carcinogenesis ,Mutagenesis, Insertional/genetics - Abstract
Cancer develops through a process of somatic evolution1,2. Sequencing data from a single biopsy represent a snapshot of this process that can reveal the timing of specific genomic aberrations and the changing influence of mutational processes3. Here, by whole-genome sequencing analysis of 2,658 cancers as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA)4, we reconstruct the life history and evolution of mutational processes and driver mutation sequences of 38 types of cancer. Early oncogenesis is characterized by mutations in a constrained set of driver genes, and specific copy number gains, such as trisomy 7 in glioblastoma and isochromosome 17q in medulloblastoma. The mutational spectrum changes significantly throughout tumour evolution in 40% of samples. A nearly fourfold diversification of driver genes and increased genomic instability are features of later stages. Copy number alterations often occur in mitotic crises, and lead to simultaneous gains of chromosomal segments. Timing analyses suggest that driver mutations often precede diagnosis by many years, if not decades. Together, these results determine the evolutionary trajectories of cancer, and highlight opportunities for early cancer detection., Whole-genome sequencing data for 2,778 cancer samples from 2,658 unique donors across 38 cancer types is used to reconstruct the evolutionary history of cancer, revealing that driver mutations can precede diagnosis by several years to decades.
- Published
- 2020
3. A community effort to create standards for evaluating tumor subclonal reconstruction
- Author
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Salcedo, A., Tarabichi, M., Espiritu, S.M.G., Deshwar, A.G., David, M., Wilson, N.M., Dentro, S., Wintersinger, J.A., Liu, L.Y., Ko, M., Sivanandan, S., Zhang, H., Zhu, K., Ou Yang, T.-H., Chilton, J.M., Buchanan, A., Lalansingh, C.M., P’ng, C., Anghel, C.V., Umar, I., Lo, B., Zou, W., Jha, A., Huang, T., Yang, T.-P., Peifer, M., Sahinalp, C., Malikic, S., Vázquez-García, I., Mustonen, V., Yang, H.-T., Lee, K.-R., Ji, Y., Sengupta, Subhajit, Rudewicz, J., Nikolski, M., Schaeverbeke, Q., Yuan, K., Markowetz, F., Macintyre, G., Cmero, M., Chaudhary, B., Leshchiner, I., Livitz, D., Getz, G., Loher, P., Yu, K., Wang, W., Zhu, H., Simpson, J.T., Stuart, J.M., Anastassiou, D., Guan, Y., Ewing, A.D., Ellrott, K., Wedge, D.C., Morris, Q., Van Loo, P., Boutros, P.C., Department of Ecology and Evolutionary Biology [University of Toronto] (EEB), University of Toronto, Pennsylvania State University (Penn State), Penn State System, The Wellcome Trust Sanger Institute [Cambridge], Capital Normal University [Beijing], University of Queensland [Brisbane], Nuffield Department of Medicine [Oxford, UK] (Big Data Institute), University of Oxford [Oxford], Department of Computer Science, Helsinki Institute for Information Technology, Bioinformatics, Institute of Biotechnology, and Organismal and Evolutionary Biology Research Programme
- Subjects
DNA Copy Number Variations ,Tumour heterogeneity ,Computer science ,3122 Cancers ,Gene Dosage ,Biomedical Engineering ,Inference ,Bioengineering ,Computational biology ,Polymorphism, Single Nucleotide ,Applied Microbiology and Biotechnology ,Genome ,Tumor heterogeneity ,Article ,DNA sequencing ,03 medical and health sciences ,0302 clinical medicine ,GENOME SIMULATION ,Neoplasms ,Humans ,HETEROGENEITY ,Computer Simulation ,SOMATIC POINT MUTATIONS ,Evolutionary dynamics ,ComputingMilieux_MISCELLANEOUS ,030304 developmental biology ,0303 health sciences ,318 Medical biotechnology ,IDENTIFICATION ,Manchester Cancer Research Centre ,ResearchInstitutes_Networks_Beacons/mcrc ,Reference Standards ,CANCER ,[SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM] ,EVOLUTION ,Clone Cells ,3. Good health ,Cancer evolution ,Mutation ,Mutation (genetic algorithm) ,Molecular Medicine ,[INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM] ,Algorithms ,030217 neurology & neurosurgery ,Biotechnology - Abstract
Tumor DNA sequencing data can be interpreted by computational methods that analyse genomic heterogeneity to infer evolutionary dynamics. A growing number of studies have used these approaches to link cancer evolution with clinical progression and response to therapy. Although the inference of tumor phylogenies is rapidly becoming standard practice in cancer genome analyses, standards for evaluating tumor phylogenies are lacking. To address this need, we systematically assess methods for reconstructing tumor sub-clonality. First, we elucidate the main algorithmic problems in subclonal reconstruction and develop quantitative metrics for evaluating them. Then we simulate realistic tumor genomes that harbor all known clonal and subclonal mutation types and processes. We benchmark 580 tumor reconstructions, varying tumor read-depth, tumour type, and somatic variant detection. Our analysis provides a baseline for the establishment of gold-standard methods to analyze tumor heterogeneity., Editors summary Methods for reconstructing tumor evolution are benchmarked in the DREAM Somatic Mutation Calling Tumour Heterogeneity Challenge using novel tools.
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- 2020
4. Author Correction: Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
- Author
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Bailey M. H., Meyerson W. U., Dursi L. J., Wang L. -B., Dong G., Liang W. -W., Weerasinghe A., Li S., Li Y., Kelso S., Akbani R., Anur P., Buchanan A., Chiotti K., Covington K., Creason A., Ding L., Ellrott K., Fan Y., Foltz S., Getz G., Hale W., Haussler D., Hess J. M., Hutter C. M., Kandoth C., Kasaian K., Kasapi M., Larson D., Leshchiner I., Letaw J., Ma S., McLellan M. D., Men Y., Mills G. B., Niu B., Peto M., Radenbaugh A., Reynolds S. M., Saksena G., Sofia H., Stewart C., Struck A. J., Stuart J. M., Wang W., Weinstein J. N., Wheeler D. A., Wong C. K., Xi L., Ye K., Bieg M., Boutros P. C., Buchhalter I., Butler A. P., Chen K., Chong Z., Drechsel O., Jonathan Dursi L., Eils R., Espiritu S. M. G., Fulton R. S., Gao S., Gelpi J. L., Gerstein M. B., Gonzalez S., Gut I. G., Hach F., Heinold M. C., Hinton J., Hu T., Huang V., Huang Y., Hutter B., Jones D. R., Jung J., Jager N., Kim H. -L., Kleinheinz K., Kumar S., Kumar Y., Lalansingh C. M., Letunic I., Livitz D., Ma E. Z., Maruvka Y. E., Mashl R. J., Menzies A., Milovanovic A., Nielsen M. M., Ossowski S., Paramasivam N., Pedersen J. S., Perry M. D., Puiggros M., Raine K. M., Rheinbay E., Royo R., Sahinalp S. C., Sarrafi I., Schlesner M., Simpson J. T., Stebbings L., Stobbe M. D., Teague J. W., Tiao G., Torrents D., Wala J. A., Wang J., Waszak S. M., Weischenfeldt J., Wendl M. C., Werner J., Wu Z., Xue H., Yakneen S., Yamaguchi T. N., Yellapantula V. D., Yung C. K., Zhang J., Aaltonen L. A., Abascal F., Abeshouse A., Aburatani H., Adams D. J., Agrawal N., Ahn K. S., Ahn S. -M., Aikata H., Akdemir K. C., Al-Ahmadie H., Al-Sedairy S. T., Al-Shahrour F., Alawi M., Albert M., Aldape K., Alexandrov L. B., Ally A., Alsop K., Alvarez E. G., Amary F., Amin S. B., Aminou B., Ammerpohl O., Anderson M. J., Ang Y., Antonello D., Aparicio S., Appelbaum E. L., Arai Y., Aretz A., Arihiro K., Ariizumi S. -I., Armenia J., Arnould L., Asa S., Assenov Y., Atwal G., Aukema S., Auman J. T., Aure M. R., Awadalla P., Aymerich M., Bader G. D., Baez-Ortega A., Bailey P. J., Balasundaram M., Balu S., Bandopadhayay P., Banks R. E., Barbi S., Barbour A. P., Barenboim J., Barnholtz-Sloan J., Barr H., Barrera E., Bartlett J., Bartolome J., Bassi C., Bathe O. F., Baumhoer D., Bavi P., Baylin S. B., Bazant W., Beardsmore D., Beck T. A., Behjati S., Behren A., Bell C., Beltran S., Benz C., Berchuck A., Bergmann A. K., Bergstrom E. N., Berman B. P., Berney D. M., Bernhart S. H., Beroukhim R., Berrios M., Bersani S., Bertl J., Betancourt M., Bhandari V., Bhosle S. G., Biankin A. V., Bigner D., Binder H., Birney E., Birrer M., Biswas N. K., Bjerkehagen B., Bodenheimer T., Boice L., Bonizzato G., De Bono J. S., Boot A., Bootwalla M. S., Borg A., Borkhardt A., Boroevich K. A., Borozan I., Borst C., Bosenberg M., Bosio M., Boultwood J., Bourque G., Bova G. S., Bowen D. T., Bowlby R., Bowtell D. D. L., Boyault S., Boyce R., Boyd J., Brazma A., Brennan P., Brewer D. S., Brinkman A. B., Bristow R. G., Broaddus R. R., Brock J. E., Brock M., Broeks A., Brooks A. N., Brooks D., Brors B., Brunak S., Bruxner T. J. C., Bruzos A. L., Buchholz C., Bullman S., Burke H., Burkhardt B., Burns K. H., Busanovich J., Bustamante C. D., Butte A. J., Byrne N. J., Borresen-Dale A. -L., Caesar-Johnson S. J., Cafferkey A., Cahill D., Calabrese C., Caldas C., Calvo F., Camacho N., Campbell P. J., Campo E., Cantu C., Cao S., Carey T. E., Carlevaro-Fita J., Carlsen R., Cataldo I., Cazzola M., Cebon J., Cerfolio R., Chadwick D. E., Chakravarty D., Chalmers D., Chan C. W. Y., Chan K., Chan-Seng-Yue M., Chandan V. S., Chang D. K., Chanock S. J., Chantrill L. A., Chateigner A., Chatterjee N., Chayama K., Chen H. -W., Chen J., Chen Y., Chen Z., Cherniack A. D., Chien J., Chiew Y. -E., Chin S. -F., Cho J., Cho S., Choi J. K., Choi W., Chomienne C., Choo S. P., Chou A., Christ A. N., Christie E. L., Chuah E., Cibulskis C., Cibulskis K., Cingarlini S., Clapham P., Claviez A., Cleary S., Cloonan N., Cmero M., Collins C. C., Connor A. A., Cooke S. L., Cooper C. S., Cope L., Corbo V., Cordes M. G., Cordner S. M., Cortes-Ciriano I., Cowin P. A., Craft B., Craft D., Creighton C. J., Cun Y., Curley E., Cutcutache I., Czajka K., Czerniak B., Dagg R. A., Danilova L., Davi M. V., Davidson N. R., Davies H., Davis I. J., Davis-Dusenbery B. N., Dawson K. J., De La Vega F. M., De Paoli-Iseppi R., Defreitas T., Dei Tos A. P., Delaneau O., Demchok J. A., Demeulemeester J., Demidov G. M., Demircioglu D., Dennis N. M., Denroche R. E., Dentro S. C., Desai N., Deshpande V., Deshwar A. G., Desmedt C., Deu-Pons J., Dhalla N., Dhani N. C., Dhingra P., Dhir R., DiBiase A., Diamanti K., Ding S., Dinh H. Q., Dirix L., Doddapaneni H. V., Donmez N., Dow M. T., Drapkin R., Drews R. M., Serge S., Dudderidge T., Dueso-Barroso A., Dunford A. J., Dunn M., Duthie F. R., Dutton-Regester K., Eagles J., Easton D. F., Edmonds S., Edwards P. A., Edwards S. E., Eeles R. A., Ehinger A., Eils J., El-Naggar A., Eldridge M., Erkek S., Escaramis G., Estivill X., Etemadmoghadam D., Eyfjord J. E., Faltas B. M., Fan D., Faquin W. C., Farcas C., Fassan M., Fatima A., Favero F., Fayzullaev N., Felau I., Fereday S., Ferguson M. L., Ferretti V., Feuerbach L., Field M. A., Fink J. L., Finocchiaro G., Fisher C., Fittall M. W., Fitzgerald A., Fitzgerald R. C., Flanagan A. M., Fleshner N. E., Flicek P., Foekens J. A., Fong K. M., Fonseca N. A., Foster C. S., Fox N. S., Fraser M., Frazer S., Frenkel-Morgenstern M., Friedman W., Frigola J., Fronick C. C., Fujimoto A., Fujita M., Fukayama M., Fulton L. A., Furuta M., Futreal P. A., Fullgrabe A., Gabriel S. B., Gallinger S., Gambacorti Passerini C., Gao J., Garraway L., Garred O., Garrison E., Garsed D. W., Gehlenborg N., George J., Gerhard D. S., Gerhauser C., Gershenwald J. E., Gerstung M., Ghori M., Ghossein R., Giama N. H., Gibbs R. A., Gill A. J., Gill P., Giri D. D., Glodzik D., Gnanapragasam V. J., Goebler M. E., Goldman M. J., Gomez C., Gonzalez-Perez A., Gordenin D. A., Gossage J., Gotoh K., Govindan R., Grabau D., Graham J. S., Grant R. C., Green A. R., Green E., Greger L., Grehan N., Grimaldi S., Grimmond S. M., Grossman R. L., Grundhoff A., Gundem G., Guo Q., Gupta M., Gupta S., Gut M., Goke J., Ha G., Haake A., Haan D., Haas S., Haase K., Haber J. E., Habermann N., Haider S., Hama N., Hamdy F. C., Hamilton A., Hamilton M. P., Han L., Hanna G. B., Hansmann M., Haradhvala N. J., Harismendy O., Harliwong I., Harmanci A. O., Harrington E., Hasegawa T., Hawkins S., Hayami S., Hayashi S., Hayes D. N., Hayes S. J., Hayward N. K., Hazell S., He Y., Heath A. P., Heath S. C., Hedley D., Hegde A. M., Heiman D. I., Heins Z., Heisler L. E., Hellstrom-Lindberg E., Helmy M., Heo S. G., Hepperla A. J., Heredia-Genestar J. M., Herrmann C., Hersey P., Hilmarsdottir H., Hirano S., Hiraoka N., Hoadley K. A., Hobolth A., Hodzic E., Hoell J. I., Hoffmann S., Hofmann O., Holbrook A., Holik A. Z., Hollingsworth M. A., Holmes O., Holt R. A., Hong C., Hong E. P., Hong J. H., Hooijer G. K., Hornshoj H., Hosoda F., Hou Y., Hovestadt V., Howat W., Hoyle A. P., Hruban R. H., Hu J., Hua X., Huang K. -L., Huang M., Huang M. N., Huber W., Hudson T. J., Hummel M., Hung J. A., Huntsman D., Hupp T. R., Huse J., Huska M. R., Hubschmann D., Iacobuzio-Donahue C. A., Imbusch C. D., Imielinski M., Imoto S., Isaacs W. B., Isaev K., Ishikawa S., Iskar M., Islam S. M. A., Ittmann M., Ivkovic S., Izarzugaza J. M. G., Jacquemier J., Jakrot V., Jamieson N. B., Jang G. H., Jang S. J., Jayaseelan J. C., Jayasinghe R., Jefferys S. R., Jegalian K., Jennings J. L., Jeon S. -H., Jerman L., Ji Y., Jiao W., Johansson P. A., Johns A. L., Johns J., Johnson R., Johnson T. A., Jolly C., Joly Y., Jonasson J. G., Jones C. D., Jones D. T. W., Jones N., Jones S. J. M., Jonkers J., Ju Y. S., Juhl H., Juul M., Juul R. I., Juul S., Kabbe R., Kahles A., Kahraman A., Kaiser V. B., Kakavand H., Kalimuthu S., von Kalle C., Kang K. J., Karaszi K., Karlan B., Karlic R., Karsch D., Kassahn K. S., Katai H., Kato M., Katoh H., Kawakami Y., Kay J. D., Kazakoff S. H., Kazanov M. D., Keays M., Kebebew E., Kefford R. F., Kellis M., Kench J. G., Kennedy C. J., Kerssemakers J. N. A., Khoo D., Khoo V., Khuntikeo N., Khurana E., Kilpinen H., Kim H. K., Kim H. -Y., Kim H., Kim J., Kim J. K., Kim Y., King T. A., Klapper W., Klimczak L. J., Knappskog S., Kneba M., Knoppers B. M., Koh Y., Jan Komorowski, Komura D., Komura M., Kong G., Kool M., Korbel J. O., Korchina V., Korshunov A., Koscher M., Koster R., Kote-Jarai Z., Koures A., Kovacevic M., Kremeyer B., Kretzmer H., Kreuz M., Krishnamurthy S., Kube D., Kumar K., Kumar P., Kundra R., Kubler K., Kuppers R., Lagergren J., Lai P. H., Laird P. W., Lakhani S. R., Lalonde E., Lamaze F. C., Lambert A., Lander E., Landgraf P., Landoni L., Langerod A., Lanzos A., Larsimont D., Larsson E., Lathrop M., Lau L. M. S., Lawerenz C., Lawlor R. T., Lawrence M. S., Lazar A. J., Le X., Lee D., Lee E. A., Lee H. J., Lee J. J. -K., Lee J. -Y., Lee J., Lee M. T. M., Lee-Six H., Lehmann K. -V., Lehrach H., Lenze D., Leonard C. R., Leongamornlert D. A., Letourneau L., Levine D. A., Lewis L., Ley T., Li C., Li C. H., Li H. I., Li J., Li L., Li X., Liang H., Liang S. -B., Lichter P., Lin P., Lin Z., Linehan W. M., Lingjaerde O. C., Liu D., Liu E. M., Liu F. -F., Liu F., Liu J., Liu X., Livingstone J., Livni N., Lochovsky L., Loeffler M., Long G. V., Lopez-Guillermo A., Lou S., Louis D. N., Lovat L. B., Lu Y., Lu Y. -J., Luchini C., Lungu I., Luo X., Luxton H. J., Lynch A. G., Lype L., Lopez C., Lopez-Otin C., Ma Y., MacGrogan G., MacRae S., Macintyre G., Madsen T., Maejima K., Mafficini A., Maglinte D. T., Maitra A., Majumder P. P., Malcovati L., Malikic S., Malleo G., Mann G. J., Mantovani-Loffler L., Marchal K., Marchegiani G., Mardis E. R., Margolin A. A., Marin M. G., Markowetz F., Markowski J., Marks J., Marques-Bonet T., Marra M. A., Marsden L., Martens J. W. M., Martin S., Martin-Subero J. I., Martincorena I., Martinez-Fundichely A., Massie C. E., Matthew T. J., Matthews L., Mayer E., Mayes S., Mayo M., Mbabaali F., McCune K., McDermott U., McGillivray P. D., McPherson J. D., McPherson J. R., McPherson T. A., Meier S. R., Meng A., Meng S., Merrett N. D., Merson S., Meyerson M., Mieczkowski P. A., Mihaiescu G. L., Mijalkovic S., Mijalkovic-Lazic A. M., Mikkelsen T., Milella M., Mileshkin L., Miller C. A., Miller D. K., Miller J. K., Minner S., Miotto M., Arnau G. M., Mirabello L., Mitchell C., Mitchell T. J., Miyano S., Miyoshi N., Mizuno S., Molnar-Gabor F., Moore M. J., Moore R. A., Morganella S., Morris Q. D., Morrison C., Mose L. E., Moser C. D., Muinos F., Mularoni L., Mungall A. J., Mungall K., Musgrove E. A., Mustonen V., Mutch D., Muyas F., Muzny D. M., Munoz A., Myers J., Myklebost O., Moller P., Nagae G., Nagrial A. M., Nahal-Bose H. K., Nakagama H., Nakagawa H., Nakamura H., Nakamura T., Nakano K., Nandi T., Nangalia J., Nastic M., Navarro A., Navarro F. C. P., Neal D. E., Nettekoven G., Newell F., Newhouse S. J., Newton Y., Ng A. W. T., Ng A., Nicholson J., Nicol D., Nie Y., Nielsen G. P., Nik-Zainal S., Noble M. S., Nones K., Northcott P. A., Notta F., O'Connor B. D., O'Donnell P., O'Donovan M., O'Meara S., O'Neill B. P., O'Neill J. R., Ocana D., Ochoa A., Oesper L., Ogden C., Ohdan H., Ohi K., Ohno-Machado L., Oien K. A., Ojesina A. I., Ojima H., Okusaka T., Omberg L., Ong C. K., Ott G., Ouellette B. F. F., P'ng C., Paczkowska M., Paiella S., Pairojkul C., Pajic M., Pan-Hammarstrom Q., Papaemmanuil E., Papatheodorou I., Park J. W., Park J. -W., Park K., Park P. J., Parker J. S., Parsons S. L., Pass H., Pasternack D., Pastore A., Patch A. -M., Pauporte I., Pea A., Pearson J. V., Pedamallu C. S., Pederzoli P., Peifer M., Pennell N. A., Perou C. M., Petersen G. M., Petrelli N., Petryszak R., Pfister S. M., Phillips M., Pich O., Pickett H. A., Pihl T. D., Pillay N., Pinder S., Pinese M., Pinho A. V., Pitkanen E., Pivot X., Pineiro-Yanez E., Planko L., Plass C., Polak P., Pons T., Popescu I., Potapova O., Prasad A., Preston S. R., Prinz M., Pritchard A. L., Prokopec S. D., Provenzano E., Puente X. S., Puig S., Pulido-Tamayo S., Pupo G. M., Purdie C. A., Quinn M. C., Rabionet R., Rader J. S., Radlwimmer B., Radovic P., Raeder B., Ramakrishna M., Ramakrishnan K., Ramalingam S., Raphael B. J., Rathmell W. K., Rausch T., Reifenberger G., Reimand J., Reis-Filho J., Reuter V., Reyes-Salazar I., Reyna M. A., Riazalhosseini Y., Richardson A. L., Richter J., Ringel M., Ringner M., Rino Y., Rippe K., Roach J., Roberts L. R., Roberts N. D., Roberts S. A., Robertson A. G., Robertson A. J., Rodriguez J. B., Rodriguez-Martin B., Rodriguez-Gonzalez F. G., Roehrl M. H. A., Rohde M., Rokutan H., Romieu G., Rooman I., Roques T., Rosebrock D., Rosenberg M., Rosenstiel P. C., Rosenwald A., Rowe E. W., Rozen S. G., Rubanova Y., Rubin M. A., Rubio-Perez C., Rudneva V. A., Rusev B. C., Ruzzenente A., Ratsch G., Sabarinathan R., Sabelnykova V. Y., Sadeghi S., Saini N., Saito-Adachi M., Salcedo A., Salgado R., Salichos L., Sallari R., Saller C., Salvia R., Sam M., Samra J. S., Sanchez-Vega F., Sander C., Sanders G., Sarin R., Sasaki-Oku A., Sauer T., Sauter G., Saw R. P. M., Scardoni M., Scarlett C. J., Scarpa A., Scelo G., Schadendorf D., Schein J. E., Schilhabel M. B., Schlomm T., Schmidt H. K., Schramm S. -J., Schreiber S., Schultz N., Schumacher S. E., Schwarz R. F., Scolyer R. A., Scott D., Scully R., Seethala R., Segre A. V., Selander I., Semple C. A., Senbabaoglu Y., Sengupta S., Sereni E., Serra S., Sgroi D. C., Shackleton M., Shah N. C., Shahabi S., Shang C. A., Shang P., Shapira O., Shelton T., Shen C., Shen H., Shepherd R., Shi R., Shi Y., Shiah Y. -J., Shibata T., Shih J., Shimizu E., Shimizu K., Shin S. J., Shiraishi Y., Shmaya T., Shmulevich I., Shorser S. I., Short C., Shrestha R., Shringarpure S. S., Shriver C., Shuai S., Sidiropoulos N., Siebert R., Sieuwerts A. M., Sieverling L., Signoretti S., Sikora K. O., Simbolo M., Simon R., Simons J. V., Singer S., Sinnott-Armstrong N., Sipahimalani P., Skelly T. J., Smid M., Smith J., Smith-McCune K., Socci N. D., Sofia H. J., Soloway M. G., Song L., Sood A. K., Sothi S., Sotiriou C., Soulette C. M., Span P. N., Spellman P. T., Sperandio N., Spillane A. J., Spiro O., Spring J., Staaf J., Stadler P. F., Staib P., Stark S. G., Stefansson O. A., Stegle O., Stein L. D., Stenhouse A., Stilgenbauer S., Stratton M. R., Stretch J. R., Stunnenberg H. G., Su H., Su X., Sun R. X., Sungalee S., Susak H., Suzuki A., Sweep F., Szczepanowski M., Sultmann H., Yugawa T., Tam A., Tamborero D., Tan B. K. 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Veluvolu, U, Vembu, S, Verbeke, L, Vermeulen, P, Verrill, C, Viari, A, Vicente, D, Vicentini, C, Raghavan, K, Viksna, J, Vilain, R, Villasante, I, Vincent-Salomon, A, Visakorpi, T, Voet, D, Vyas, P, Vazquez-Garcia, I, Waddell, N, Wadelius, C, Wadi, L, Wagener, R, Wang, Q, Wang, Y, Wang, Z, Waring, P, Warnatz, H, Warrell, J, Warren, A, Wedge, D, Weichenhan, D, Weinberger, P, Weisenberger, D, Welch, I, Whalley, J, Whitaker, H, Wigle, D, Wilkerson, M, Williams, A, Wilmott, J, Wilson, G, Wilson, J, Wilson, R, Winterhoff, B, Wintersinger, J, Wiznerowicz, M, Wolf, S, Wong, B, Wong, T, Wong, W, Woo, Y, Wood, S, Wouters, B, Wright, A, Wright, D, Wright, M, Wu, C, Wu, D, Wu, G, Wu, J, Wu, K, Wu, Y, Xia, T, Xiang, Q, Xiao, X, Xing, R, Xiong, H, Xu, Q, Xu, Y, Yachida, S, Yamaguchi, R, Yamamoto, M, Yamamoto, S, Yamaue, H, Yang, F, Yang, H, Yang, J, Yang, L, Yang, S, Yang, T, Yang, Y, Yao, X, Yaspo, M, Yates, L, Yau, C, Ye, C, Yoon, C, Yoon, S, Yousif, F, Yu, J, Yu, K, Yu, W, Yu, Y, Yuan, K, Yuan, Y, Yuen, D, Zaikova, O, Zamora, J, Zapatka, M, Zenklusen, J, Zenz, T, Zeps, N, Zhang, C, Zhang, F, Zhang, H, Zhang, X, Zhang, Y, Zhang, Z, Zhao, Z, Zheng, L, Zheng, X, Zhou, W, Zhou, Y, Bin, Z, Zhu, H, Zhu, J, Zhu, S, Zou, L, Zou, X, Defazio, A, van As, N, van Deurzen, C, van de Vijver, M, van't Veer, L, von Mering, C, University of Zurich, Gerstein, Mark B, Ding, Li, and Faculty of Economic and Social Sciences and Solvay Business School
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Science ,MEDLINE ,Medizin ,General Physics and Astronomy ,Pain ,610 Medicine & health ,1600 General Chemistry ,Computational biology ,Biology ,10 kHz spinal cord stimulation ,Genome ,responders ,MC3 Working Group ,General Biochemistry, Genetics and Molecular Biology ,whole exome sequencing ,Machine Learning ,1300 General Biochemistry, Genetics and Molecular Biology ,PCAWG novel somatic mutation calling methods working group ,medicine ,cancer ,Genome mutation ,Exome ,Exome sequencing ,Whole genome sequencing ,whole genome sequencing ,Multidisciplinary ,Published Erratum ,Cancer ,PCAWG Consortium ,General Chemistry ,medicine.disease ,3100 General Physics and Astronomy ,oncology ,10032 Clinic for Oncology and Hematology ,Prediction - Abstract
Weitere Nicht-UDE-Autoren sind nicht genannt. Originalpublikation: 10.1038/s41467-020-18151-y. CA extern The original version of this Article omitted from the author list the 9th author Yize Li, who is from the ‘The McDonnell Genome Institute at Washington University, St. Louis, MO 63108, USA and Department of Medicine, Division of Oncology, Washington University School of Medicine, St. Louis, MO 63108, USA’. This has been corrected in both the PDF and HTML versions of the Article. © 2020, The Author(s).
- Published
- 2020
5. Sex differences in oncogenic mutational processes
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Li C. H., Prokopec S. D., Sun R. X., Yousif F., Schmitz N., Al-Shahrour F., Atwal G., Bailey P. J., Biankin A. V., Boutros P. C., Campbell P. J., Chang D. K., Cooke S. L., Deshpande V., Faltas B. M., Faquin W. C., Garraway L., Getz G., Grimmond S. M., Haider S., Hoadley K. A., Jiao W., Kaiser V. B., Karlic R., Kato M., Kubler K., Lazar A. J., Louis D. N., Margolin A., Martin S., Nahal-Bose H. K., Nielsen G. P., Nik-Zainal S., Omberg L., P'ng C., Perry M. D., Polak P., Rheinbay E., Rubin M. A., Semple C. A., Sgroi D. C., Shibata T., Siebert R., Smith J., Stein L. D., Stobbe M. D., Thai K., Wright D. W., Wu C. -L., Yuan K., Zhang J., Aaltonen L. A., Abascal F., Abeshouse A., Aburatani H., Adams D. J., Agrawal N., Ahn K. S., Ahn S. -M., Aikata H., Akbani R., Akdemir K. C., Al-Ahmadie H., Al-Sedairy S. T., Alawi M., Albert M., Aldape K., Alexandrov L. B., Ally A., Alsop K., Alvarez E. G., Amary F., Amin S. B., Aminou B., Ammerpohl O., Anderson M. J., Ang Y., Antonello D., Anur P., Aparicio S., Appelbaum E. L., Arai Y., Aretz A., Arihiro K., Ariizumi S. -I., Armenia J., Arnould L., Asa S., Assenov Y., Aukema S., Auman J. T., Aure M. R., Awadalla P., Aymerich M., Bader G. D., Baez-Ortega A., Bailey M. H., Balasundaram M., Balu S., Bandopadhayay P., Banks R. E., Barbi S., Barbour A. P., Barenboim J., Barnholtz-Sloan J., Barr H., Barrera E., Bartlett J., Bartolome J., Bassi C., Bathe O. F., Baumhoer D., Bavi P., Baylin S. B., Bazant W., Beardsmore D., Beck T. A., Behjati S., Behren A., Niu B., Bell C., Beltran S., Benz C., Berchuck A., Bergmann A. K., Bergstrom E. N., Berman B. P., Berney D. M., Bernhart S. H., Beroukhim R., Berrios M., Bersani S., Bertl J., Betancourt M., Bhandari V., Bhosle S. G., Bieg M., Bigner D., Binder H., Birney E., Birrer M., Biswas N. K., Bjerkehagen B., Bodenheimer T., Boice L., Bonizzato G., De Bono J. S., Boot A., Bootwalla M. S., Borg A., Borkhardt A., Boroevich K. A., Borozan I., Borst C., Bosenberg M., Bosio M., Boultwood J., Bourque G., Bova G. S., Bowen D. T., Bowlby R., Bowtell D. D. L., Boyault S., Boyce R., Boyd J., Brazma A., Brennan P., Brewer D. S., Brinkman A. B., Bristow R. G., Broaddus R. R., Brock J. E., Brock M., Broeks A., Brooks A. N., Brooks D., Brors B., Brunak S., Bruxner T. J. C., Bruzos A. L., Buchanan A., Buchhalter I., Buchholz C., Bullman S., Burke H., Burkhardt B., Burns K. H., Busanovich J., Bustamante C. D., Butler A. P., Butte A. J., Byrne N. J., Borresen-Dale A. -L., Caesar-Johnson S. J., Cafferkey A., Cahill D., Calabrese C., Caldas C., Calvo F., Camacho N., Campo E., Cantu C., Cao S., Carey T. E., Carlevaro-Fita J., Carlsen R., Cataldo I., Cazzola M., Cebon J., Cerfolio R., Chadwick D. E., Chakravarty D., Chalmers D., Chan C. W. Y., Chan K., Chan-Seng-Yue M., Chandan V. S., Chanock S. J., Chantrill L. A., Chateigner A., Chatterjee N., Chayama K., Chen H. -W., Chen J., Chen K., Chen Y., Chen Z., Cherniack A. D., Chien J., Chiew Y. -E., Chin S. -F., Cho J., Cho S., Choi J. K., Choi W., Chomienne C., Chong Z., Choo S. P., Chou A., Christ A. N., Christie E. L., Chuah E., Cibulskis C., Cibulskis K., Cingarlini S., Clapham P., Claviez A., Cleary S., Cloonan N., Cmero M., Collins C. C., Connor A. A., Cooper C. S., Cope L., Corbo V., Cordes M. G., Cordner S. M., Cortes-Ciriano I., Covington K., Cowin P. A., Craft B., Craft D., Creighton C. J., Cun Y., Curley E., Cutcutache I., Czajka K., Czerniak B., Dagg R. A., Danilova L., Davi M. V., Davidson N. R., Davies H., Davis I. J., Davis-Dusenbery B. N., Dawson K. J., De La Vega F. M., De Paoli-Iseppi R., Defreitas T., Dei Tos A. P., Delaneau O., Demchok J. A., Demeulemeester J., Demidov G. M., Demircioglu D., Dennis N. M., Denroche R. E., Dentro S. C., Desai N., Deshwar A. G., Desmedt C., Deu-Pons J., Dhalla N., Dhani N. C., Dhingra P., Dhir R., DiBiase A., Diamanti K., Ding L., Ding S., Dinh H. Q., Dirix L., Doddapaneni H. V., Donmez N., Dow M. T., Drapkin R., Drechsel O., Drews R. M., Serge S., Dudderidge T., Dueso-Barroso A., Dunford A. J., Dunn M., Dursi L. J., Duthie F. R., Dutton-Regester K., Eagles J., Easton D. F., Edmonds S., Edwards P. A., Edwards S. E., Eeles R. A., Ehinger A., Eils J., Eils R., El-Naggar A., Eldridge M., Ellrott K., Erkek S., Escaramis G., Espiritu S. M. G., Estivill X., Etemadmoghadam D., Eyfjord J. E., Fan D., Fan Y., Farcas C., Fassan M., Fatima A., Favero F., Fayzullaev N., Felau I., Fereday S., Ferguson M. L., Ferretti V., Feuerbach L., Field M. A., Fink J. L., Finocchiaro G., Fisher C., Fittall M. W., Fitzgerald A., Fitzgerald R. C., Flanagan A. M., Fleshner N. E., Flicek P., Foekens J. A., Fong K. M., Fonseca N. A., Foster C. S., Fox N. S., Fraser M., Frazer S., Frenkel-Morgenstern M., Friedman W., Frigola J., Fronick C. C., Fujimoto A., Fujita M., Fukayama M., Fulton L. A., Fulton R. S., Furuta M., Futreal P. A., Fullgrabe A., Gabriel S. B., Gallinger S., Gambacorti Passerini C., Gao J., Gao S., Garred O., Garrison E., Garsed D. W., Gehlenborg N., Gelpi J. L. L., George J., Gerhard D. S., Gerhauser C., Gershenwald J. E., Gerstein M., Gerstung M., Ghori M., Ghossein R., Giama N. H., Gibbs R. A., Gill A. J., Gill P., Giri D. D., Glodzik D., Gnanapragasam V. J., Goebler M. E., Goldman M. J., Gomez C., Gonzalez S., Gonzalez-Perez A., Gordenin D. A., Gossage J., Gotoh K., Govindan R., Grabau D., Graham J. S., Grant R. C., Green A. R., Green E., Greger L., Grehan N., Grimaldi S., Grossman R. L., Grundhoff A., Gundem G., Guo Q., Gupta M., Gupta S., Gut I. G., Gut M., Goke J., Ha G., Haake A., Haan D., Haas S., Haase K., Haber J. E., Habermann N., Hach F., Hama N., Hamdy F. C., Hamilton A., Hamilton M. P., Han L., Hanna G. B., Hansmann M., Haradhvala N. J., Harismendy O., Harliwong I., Harmanci A. O., Harrington E., Hasegawa T., Haussler D., Hawkins S., Hayami S., Hayashi S., Hayes D. N., Hayes S. J., Hayward N. K., Hazell S., He Y., Heath A. P., Heath S. C., Hedley D., Hegde A. M., Heiman D. I., Heinold M. C., Heins Z., Heisler L. E., Hellstrom-Lindberg E., Helmy M., Heo S. G., Hepperla A. J., Heredia-Genestar J. M., Herrmann C., Hersey P., Hess J. M., Hilmarsdottir H., Hinton J., Hirano S., Hiraoka N., Hobolth A., Hodzic E., Hoell J. I., Hoffmann S., Hofmann O., Holbrook A., Holik A. Z., Hollingsworth M. A., Holmes O., Holt R. A., Hong C., Hong E. P., Hong J. H., Hooijer G. K., Hornshoj H., Hosoda F., Hou Y., Hovestadt V., Howat W., Hoyle A. P., Hruban R. H., Hu J., Hu T., Hua X., Huang K. -L., Huang M., Huang M. N., Huang V., Huang Y., Huber W., Hudson T. J., Hummel M., Hung J. A., Huntsman D., Hupp T. R., Huse J., Huska M. R., Hutter B., Hutter C. M., Hubschmann D., Iacobuzio-Donahue C. A., Imbusch C. D., Imielinski M., Imoto S., Isaacs W. B., Isaev K., Ishikawa S., Iskar M., Islam S. M. A., Ittmann M., Ivkovic S., Izarzugaza J. M. G., Jacquemier J., Jakrot V., Jamieson N. B., Jang G. H., Jang S. J., Jayaseelan J. C., Jayasinghe R., Jefferys S. R., Jegalian K., Jennings J. L., Jeon S. -H., Jerman L., Ji Y., Johansson P. A., Johns A. L., Johns J., Johnson R., Johnson T. A., Jolly C., Joly Y., Jonasson J. G., Jones C. D., Jones D. R., Jones D. T. W., Jones N., Jones S. J. M., Jonkers J., Ju Y. S., Juhl H., Jung J., Juul M., Juul R. I., Juul S., Jager N., Kabbe R., Kahles A., Kahraman A., Kakavand H., Kalimuthu S., von Kalle C., Kang K. J., Karaszi K., Karlan B., Karsch D., Kasaian K., Kassahn K. S., Katai H., Katoh H., Kawakami Y., Kay J. D., Kazakoff S. H., Kazanov M. D., Keays M., Kebebew E., Kefford R. F., Kellis M., Kench J. G., Kennedy C. J., Kerssemakers J. N. A., Khoo D., Khoo V., Khuntikeo N., Khurana E., Kilpinen H., Kim H. K., Kim H. -L., Kim H. -Y., Kim H., Kim J., Kim J. K., Kim Y., King T. A., Klapper W., Kleinheinz K., Klimczak L. J., Knappskog S., Kneba M., Knoppers B. M., Koh Y., Komorowski J., Komura D., Komura M., Kong G., Kool M., Korbel J. O., Korchina V., Korshunov A., Koscher M., Koster R., Kote-Jarai Z., Koures A., Kovacevic M., Kremeyer B., Kretzmer H., Kreuz M., Krishnamurthy S., Kube D., Kumar K., Kumar P., Kumar S., Kumar Y., Kundra R., Kuppers R., Lagergren J., Lai P. H., Laird P. W., Lakhani S. R., Lalansingh C. M., Lalonde E., Lamaze F. C., Lambert A., Lander E., Landgraf P., Landoni L., Langerod A., Lanzos A., Larsimont D., Larsson E., Lathrop M., Lau L. M. S., Lawerenz C., Lawlor R. T., Lawrence M. S., Le X., Lee D., Lee E. A., Lee H. J., Lee J. J. -K., Lee J. -Y., Lee J., Lee M. T. M., Lee-Six H., Lehmann K. -V., Lehrach H., Lenze D., Leonard C. R., Leongamornlert D. A., Leshchiner I., Letourneau L., Letunic I., Levine D. A., Lewis L., Ley T., Li C., Li H. I., Li J., Li L., Li S., Li X., Li Y., Liang H., Liang S. -B., Lichter P., Lin P., Lin Z., Linehan W. M., Lingjaerde O. C., Liu D., Liu E. M., Liu F. -F., Liu F., Liu J., Liu X., Livingstone J., Livitz D., Livni N., Lochovsky L., Loeffler M., Long G. V., Lopez-Guillermo A., Lou S., Lovat L. B., Lu Y., Lu Y. -J., Luchini C., Lungu I., Luo X., Luxton H. J., Lynch A. G., Lype L., Lopez C., Lopez-Otin C., Ma E. Z., Ma Y., MacGrogan G., MacRae S., Macintyre G., Madsen T., Maejima K., Mafficini A., Maglinte D. T., Maitra A., Majumder P. P., Malcovati L., Malikic S., Malleo G., Mann G. J., Mantovani-Loffler L., Marchal K., Marchegiani G., Mardis E. R., Margolin A. A., Marin M. G., Markowetz F., Markowski J., Marks J., Marques-Bonet T., Marra M. A., Marsden L., Martens J. W. M., Martin-Subero J. I., Martincorena I., Martinez-Fundichely A., Maruvka Y. E., Mashl R. J., Massie C. E., Matthew T. J., Matthews L., Mayer E., Mayes S., Mayo M., Mbabaali F., McCune K., McDermott U., McGillivray P. D., McLellan M. D., McPherson J. D., McPherson J. R., McPherson T. A., Meier S. R., Meng A., Meng S., Menzies A., Merrett N. D., Merson S., Meyerson M., Meyerson W., Mieczkowski P. A., Mihaiescu G. L., Mijalkovic S., Mijalkovic-Lazic A. M., Mikkelsen T., Milella M., Mileshkin L., Miller C. A., Miller D. K., Miller J. K., Mills G. B., Milovanovic A., Minner S., Miotto M., Arnau G. M., Mirabello L., Mitchell C., Mitchell T. J., Miyano S., Miyoshi N., Mizuno S., Molnar-Gabor F., Moore M. J., Moore R. A., Morganella S., Morris Q. D., Morrison C., Mose L. E., Moser C. D., Muinos F., Mularoni L., Mungall A. J., Mungall K., Musgrove E. A., Mustonen V., Mutch D., Muyas F., Muzny D. M., Munoz A., Myers J., Myklebost O., Moller P., Nagae G., Nagrial A. M., Nakagama H., Nakagawa H., Nakamura H., Nakamura T., Nakano K., Nandi T., Nangalia J., Nastic M., Navarro A., Navarro F. C. P., Neal D. E., Nettekoven G., Newell F., Newhouse S. J., Newton Y., Ng A. W. T., Ng A., Nicholson J., Nicol D., Nie Y., Nielsen M. M., Noble M. S., Nones K., Northcott P. A., Notta F., O'Connor B. D., O'Donnell P., O'Donovan M., O'Meara S., O'Neill B. P., O'Neill J. R., Ocana D., Ochoa A., Oesper L., Ogden C., Ohdan H., Ohi K., Ohno-Machado L., Oien K. A., Ojesina A. I., Ojima H., Okusaka T., Ong C. K., Ossowski S., Ott G., Ouellette B. F. F., Paczkowska M., Paiella S., Pairojkul C., Pajic M., Pan-Hammarstrom Q., Papaemmanuil E., Papatheodorou I., Paramasivam N., Park J. W., Park J. -W., Park K., Park P. J., Parker J. S., Parsons S. L., Pass H., Pasternack D., Pastore A., Patch A. -M., Pauporte I., Pea A., Pearson J. V., Pedamallu C. S., Pedersen J. S., Pederzoli P., Peifer M., Pennell N. A., Perou C. M., Petersen G. M., Peto M., Petrelli N., Petryszak R., Pfister S. M., Phillips M., Pich O., Pickett H. A., Pihl T. D., Pillay N., Pinder S., Pinese M., Pinho A. V., Pitkanen E., Pivot X., Pineiro-Yanez E., Planko L., Plass C., Pons T., Popescu I., Potapova O., Prasad A., Preston S. R., Prinz M., Pritchard A. L., Provenzano E., Puente X. S., Puig S., Puiggros M., Pulido-Tamayo S., Pupo G. M., Purdie C. A., Quinn M. C., Rabionet R., Rader J. S., Radlwimmer B., Radovic P., Raeder B., Raine K. M., Ramakrishna M., Ramakrishnan K., Ramalingam S., Raphael B. J., Rathmell W. K., Rausch T., Reifenberger G., Reimand J., Reis-Filho J., Reuter V., Reyes-Salazar I., Reyna M. A., Reynolds S. M., Riazalhosseini Y., Richardson A. L., Richter J., Ringel M., Ringner M., Rino Y., Rippe K., Roach J., Roberts L. R., Roberts N. D., Roberts S. A., Robertson A. G., Robertson A. J., Rodriguez J. B., Rodriguez-Martin B., Rodriguez-Gonzalez F. G., Roehrl M. H. A., Rohde M., Rokutan H., Romieu G., Rooman I., Roques T., Rosebrock D., Rosenberg M., Rosenstiel P. C., Rosenwald A., Rowe E. W., Royo R., Rozen S. G., Rubanova Y., Rubio-Perez C., Rudneva V. A., Rusev B. C., Ruzzenente A., Ratsch G., Sabarinathan R., Sabelnykova V. Y., Sadeghi S., Sahinalp S. C., Saini N., Saito-Adachi M., Saksena G., Salcedo A., Salgado R., Salichos L., Sallari R., Saller C., Salvia R., Sam M., Samra J. S., Sanchez-Vega F., Sander C., Sanders G., Sarin R., Sarrafi I., Sasaki-Oku A., Sauer T., Sauter G., Saw R. P. M., Scardoni M., Scarlett C. J., Scarpa A., Scelo G., Schadendorf D., Schein J. E., Schilhabel M. B., Schlesner M., Schlomm T., Schmidt H. K., Schramm S. -J., Schreiber S., Schultz N., Schumacher S. E., Schwarz R. F., Scolyer R. A., Scott D., Scully R., Seethala R., Segre A. V., Selander I., Senbabaoglu Y., Sengupta S., Sereni E., Serra S., Shackleton M., Shah N. C., Shahabi S., Shang C. A., Shang P., Shapira O., Shelton T., Shen C., Shen H., Shepherd R., Shi R., Shi Y., Shiah Y. -J., Shih J., Shimizu E., Shimizu K., Shin S. J., Shiraishi Y., Shmaya T., Shmulevich I., Shorser S. I., Short C., Shrestha R., Shringarpure S. S., Shriver C., Shuai S., Sidiropoulos N., Sieuwerts A. M., Sieverling L., Signoretti S., Sikora K. O., Simbolo M., Simon R., Simons J. V., Simpson J. T., Simpson P. T., Singer S., Sinnott-Armstrong N., Sipahimalani P., Skelly T. J., Smid M., Smith-McCune K., Socci N. D., Sofia H. J., Soloway M. G., Song L., Sood A. K., Sothi S., Sotiriou C., Soulette C. M., Span P. N., Spellman P. T., Sperandio N., Spillane A. J., Spiro O., Spring J., Staaf J., Stadler P. F., Staib P., Stark S. G., Stebbings L., Stefansson O. A., Stegle O., Stenhouse A., Stewart C., Stilgenbauer S., Stratton M. R., Stretch J. R., Struck A. J., Stuart J. M., Stunnenberg H. G., Su H., Su X., Sungalee S., Susak H., Suzuki A., Sweep F., Szczepanowski M., Sultmann H., Yugawa T., Tam A., Tamborero D., Tan B. K. T., Tan D., Tan P., Tanaka H., Taniguchi H., Tanskanen T. J., Tarabichi M., Tarnuzzer R., Tarpey P., Taschuk M. L., Tatsuno K., Tavare S., Taylor D. F., Taylor-Weiner A., Teague J. W., Teh B. T., Tembe V., Temes J., Thayer S. P., Thiessen N., Thomas G., Thomas S., Thompson A., Thompson A. M., Thompson J. F., Thompson R. H., Thorne H., Thorne L. B., Thorogood A., Tiao G., Tijanic N., Timms L. E., Tirabosco R., Tojo M., Tommasi S., Toon C. W., Toprak U. H., Torrents D., Tortora G., Tost J., Totoki Y., Townend D., Traficante N., Treilleux I., Trotta J. -R., Trumper L. H. P., Tsao M., Tsunoda T., Tubio J. M. C., Tucker O., Turkington R., Turner D. J., Tutt A., Ueno M., Ueno N. T., Umbricht C., Umer H. M., Underwood T. J., Urban L., Urushidate T., Ushiku T., Uuskula-Reimand L., Valencia A., Van Den Berg D. J., Van Laere S., Van Loo P., Van Meir E. G., Van den Eynden G. G., Van der Kwast T., Vasudev N., Vazquez M., Vedururu R., Veluvolu U., Vembu S., Verbeke L. P. C., Vermeulen P., Verrill C., Viari A., Vicente D., Vicentini C., Raghavan K. V., Viksna J., Vilain R. E., Villasante I., Vincent-Salomon A., Visakorpi T., Voet D., Vyas P., Vazquez-Garcia I., Waddell N. M., Waddell N., Wadelius C., Wadi L., Wagener R., Wala J. A., Wang J., Wang L., Wang Q., Wang W., Wang Y., Wang Z., Waring P. M., Warnatz H. -J., Warrell J., Warren A. Y., Waszak S. M., Wedge D. C., Weichenhan D., Weinberger P., Weinstein J. N., Weischenfeldt J., Weisenberger D. J., Welch I., Wendl M. C., Werner J., Whalley J. P., Wheeler D. A., Whitaker H. C., Wigle D., Wilkerson M. D., Williams A., Wilmott J. S., Wilson G. W., Wilson J. M., Wilson R. K., Winterhoff B., Wintersinger J. A., Wiznerowicz M., Wolf S., Wong B. H., Wong T., Wong W., Woo Y., Wood S., Wouters B. G., Wright A. J., Wright M. H., Wu D. -Y., Wu G., Wu J., Wu K., Wu Y., Wu Z., Xi L., Xia T., Xiang Q., Xiao X., Xing R., Xiong H., Xu Q., Xu Y., Xue H., Yachida S., Yakneen S., Yamaguchi R., Yamaguchi T. N., Yamamoto M., Yamamoto S., Yamaue H., Yang F., Yang H., Yang J. Y., Yang L., Yang S., Yang T. -P., Yang Y., Yao X., Yaspo M. -L., Yates L., Yau C., Ye C., Ye K., Yellapantula V. D., Yoon C. J., Yoon S. -S., Yu J., Yu K., Yu W., Yu Y., Yuan Y., Yuen D., Yung C. K., Zaikova O., Zamora J., Zapatka M., Zenklusen J. C., Zenz T., Zeps N., Zhang C. -Z., Zhang F., Zhang H., Zhang X., Zhang Y., Zhang Z., Zhao Z., Zheng L., Zheng X., Zhou W., Zhou Y., Zhu B., Zhu H., Zhu J., Zhu S., Zou L., Zou X., deFazio A., van As N., van Deurzen C. H. M., van de Vijver M. J., Veer L., von Mering C., Lauri Antti Aaltonen / Principal Investigator, Genome-Scale Biology (GSB) Research Program, Department of Medical and Clinical Genetics, Organismal and Evolutionary Biology Research Programme, Helsinki Institute for Information Technology, Institute of Biotechnology, Bioinformatics, Department of Computer Science, Faculty of Medicine, HUS Helsinki and Uusimaa Hospital District, University of St Andrews. Sir James Mackenzie Institute for Early Diagnosis, University of St Andrews. Cellular Medicine Division, University of St Andrews. Statistics, University of St Andrews. School of Medicine, Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland, Li, C, Prokopec, S, Sun, R, Yousif, F, Schmitz, N, Al-Shahrour, F, Atwal, G, Bailey, P, Biankin, A, Boutros, P, Campbell, P, Chang, D, Cooke, S, Deshpande, V, Faltas, B, Faquin, W, Garraway, L, Getz, G, Grimmond, S, Haider, S, Hoadley, K, Jiao, W, Kaiser, V, Karlic, R, Kato, M, Kubler, K, Lazar, A, Louis, D, Margolin, A, Martin, S, Nahal-Bose, H, Nielsen, G, Nik-Zainal, S, Omberg, L, P'Ng, C, Perry, M, Polak, P, Rheinbay, E, Rubin, M, Semple, C, Sgroi, D, Shibata, T, Siebert, R, Smith, J, Stein, L, Stobbe, M, Thai, K, Wright, D, Wu, C, Yuan, K, Zhang, J, Aaltonen, L, Abascal, F, Abeshouse, A, Aburatani, H, Adams, D, Agrawal, N, Ahn, K, Ahn, S, Aikata, H, Akbani, R, Akdemir, K, Al-Ahmadie, H, Al-Sedairy, S, Alawi, M, Albert, M, Aldape, K, Alexandrov, L, Ally, A, Alsop, K, Alvarez, E, Amary, F, Amin, S, Aminou, B, Ammerpohl, O, Anderson, M, Ang, Y, Antonello, D, Anur, P, Aparicio, S, Appelbaum, E, Arai, Y, Aretz, A, Arihiro, K, Ariizumi, S, Armenia, J, Arnould, L, Asa, S, Assenov, Y, Aukema, S, Auman, J, Aure, M, Awadalla, P, Aymerich, M, Bader, G, Baez-Ortega, A, Bailey, M, Balasundaram, M, Balu, S, Bandopadhayay, P, Banks, R, Barbi, S, Barbour, A, Barenboim, J, Barnholtz-Sloan, J, Barr, H, Barrera, E, Bartlett, J, Bartolome, J, Bassi, C, Bathe, O, Baumhoer, D, Bavi, P, Baylin, S, Bazant, W, Beardsmore, D, Beck, T, Behjati, S, Behren, A, Niu, B, Bell, C, Beltran, S, Benz, C, Berchuck, A, Bergmann, A, Bergstrom, E, Berman, B, Berney, D, Bernhart, S, Beroukhim, R, Berrios, M, Bersani, S, Bertl, J, Betancourt, M, Bhandari, V, Bhosle, S, Bieg, M, Bigner, D, Binder, H, Birney, E, Birrer, M, Biswas, N, Bjerkehagen, B, Bodenheimer, T, Boice, L, Bonizzato, G, De Bono, J, Boot, A, Bootwalla, M, Borg, A, Borkhardt, A, Boroevich, K, Borozan, I, Borst, C, Bosenberg, M, Bosio, M, Boultwood, J, Bourque, G, Bova, G, Bowen, D, Bowlby, R, Bowtell, D, Boyault, S, Boyce, R, Boyd, J, Brazma, A, Brennan, P, Brewer, D, Brinkman, A, Bristow, R, Broaddus, R, Brock, J, Brock, M, Broeks, A, Brooks, A, Brooks, D, Brors, B, Brunak, S, Bruxner, T, Bruzos, A, Buchanan, A, Buchhalter, I, Buchholz, C, Bullman, S, Burke, H, Burkhardt, B, Burns, K, Busanovich, J, Bustamante, C, Butler, A, Butte, A, Byrne, N, Borresen-Dale, A, Caesar-Johnson, S, Cafferkey, A, Cahill, D, Calabrese, C, Caldas, C, Calvo, F, Camacho, N, Campo, E, Cantu, C, Cao, S, Carey, T, Carlevaro-Fita, J, Carlsen, R, Cataldo, I, Cazzola, M, Cebon, J, Cerfolio, R, Chadwick, D, Chakravarty, D, Chalmers, D, Chan, C, Chan, K, Chan-Seng-Yue, M, Chandan, V, Chanock, S, Chantrill, L, Chateigner, A, Chatterjee, N, Chayama, K, Chen, H, Chen, J, Chen, K, Chen, Y, Chen, Z, Cherniack, A, Chien, J, Chiew, Y, Chin, S, Cho, J, Cho, S, Choi, J, Choi, W, Chomienne, C, Chong, Z, Choo, S, Chou, A, Christ, A, Christie, E, Chuah, E, Cibulskis, C, Cibulskis, K, Cingarlini, S, Clapham, P, Claviez, A, Cleary, S, Cloonan, N, Cmero, M, Collins, C, Connor, A, Cooper, C, Cope, L, Corbo, V, Cordes, M, Cordner, S, Cortes-Ciriano, I, Covington, K, Cowin, P, Craft, B, Craft, D, Creighton, C, Cun, Y, Curley, E, Cutcutache, I, Czajka, K, Czerniak, B, Dagg, R, Danilova, L, Davi, M, Davidson, N, Davies, H, Davis, I, Davis-Dusenbery, B, Dawson, K, De La Vega, F, De Paoli-Iseppi, R, Defreitas, T, Dei Tos, A, Delaneau, O, Demchok, J, Demeulemeester, J, Demidov, G, Demircioglu, D, Dennis, N, Denroche, R, Dentro, S, Desai, N, Deshwar, A, Desmedt, C, Deu-Pons, J, Dhalla, N, Dhani, N, Dhingra, P, Dhir, R, Dibiase, A, Diamanti, K, Ding, L, Ding, S, Dinh, H, Dirix, L, Doddapaneni, H, Donmez, N, Dow, M, Drapkin, R, Drechsel, O, Drews, R, Serge, S, Dudderidge, T, Dueso-Barroso, A, Dunford, A, Dunn, M, Dursi, L, Duthie, F, Dutton-Regester, K, Eagles, J, Easton, D, Edmonds, S, Edwards, P, Edwards, S, Eeles, R, Ehinger, A, Eils, J, Eils, R, El-Naggar, A, Eldridge, M, Ellrott, K, Erkek, S, Escaramis, G, Espiritu, S, Estivill, X, Etemadmoghadam, D, Eyfjord, J, Fan, D, Fan, Y, Farcas, C, Fassan, M, Fatima, A, Favero, F, Fayzullaev, N, Felau, I, Fereday, S, Ferguson, M, Ferretti, V, Feuerbach, L, Field, M, Fink, J, Finocchiaro, G, Fisher, C, Fittall, M, Fitzgerald, A, Fitzgerald, R, Flanagan, A, Fleshner, N, Flicek, P, Foekens, J, Fong, K, Fonseca, N, Foster, C, Fox, N, Fraser, M, Frazer, S, Frenkel-Morgenstern, M, Friedman, W, Frigola, J, Fronick, C, Fujimoto, A, Fujita, M, Fukayama, M, Fulton, L, Fulton, R, Furuta, M, Futreal, P, Fullgrabe, A, Gabriel, S, Gallinger, S, Gambacorti Passerini, C, Gao, J, Gao, S, Garred, O, Garrison, E, Garsed, D, Gehlenborg, N, Gelpi, J, George, J, Gerhard, D, Gerhauser, C, Gershenwald, J, Gerstein, M, Gerstung, M, Ghori, M, Ghossein, R, Giama, N, Gibbs, R, Gill, A, Gill, P, Giri, D, Glodzik, D, Gnanapragasam, V, Goebler, M, Goldman, M, Gomez, C, Gonzalez, S, Gonzalez-Perez, A, Gordenin, D, Gossage, J, Gotoh, K, Govindan, R, Grabau, D, Graham, J, Grant, R, Green, A, Green, E, Greger, L, Grehan, N, Grimaldi, S, Grossman, R, Grundhoff, A, Gundem, G, Guo, Q, Gupta, M, Gupta, S, Gut, I, Gut, M, Goke, J, Ha, G, Haake, A, Haan, D, Haas, S, Haase, K, Haber, J, Habermann, N, Hach, F, Hama, N, Hamdy, F, Hamilton, A, Hamilton, M, Han, L, Hanna, G, Hansmann, M, Haradhvala, N, Harismendy, O, Harliwong, I, Harmanci, A, Harrington, E, Hasegawa, T, Haussler, D, Hawkins, S, Hayami, S, Hayashi, S, Hayes, D, Hayes, S, Hayward, N, Hazell, S, He, Y, Heath, A, Heath, S, Hedley, D, Hegde, A, Heiman, D, Heinold, M, Heins, Z, Heisler, L, Hellstrom-Lindberg, E, Helmy, M, Heo, S, Hepperla, A, Heredia-Genestar, J, Herrmann, C, Hersey, P, Hess, J, Hilmarsdottir, H, Hinton, J, Hirano, S, Hiraoka, N, Hobolth, A, Hodzic, E, Hoell, J, Hoffmann, S, Hofmann, O, Holbrook, A, Holik, A, Hollingsworth, M, Holmes, O, Holt, R, Hong, C, Hong, E, Hong, J, Hooijer, G, Hornshoj, H, Hosoda, F, Hou, Y, Hovestadt, V, Howat, W, Hoyle, A, Hruban, R, Hu, J, Hu, T, Hua, X, Huang, K, Huang, M, Huang, V, Huang, Y, Huber, W, Hudson, T, Hummel, M, Hung, J, Huntsman, D, Hupp, T, Huse, J, Huska, M, Hutter, B, Hutter, C, Hubschmann, D, Iacobuzio-Donahue, C, Imbusch, C, Imielinski, M, Imoto, S, Isaacs, W, Isaev, K, Ishikawa, S, Iskar, M, Islam, S, Ittmann, M, Ivkovic, S, Izarzugaza, J, Jacquemier, J, Jakrot, V, Jamieson, N, Jang, G, Jang, S, Jayaseelan, J, Jayasinghe, R, Jefferys, S, Jegalian, K, Jennings, J, Jeon, S, Jerman, L, Ji, Y, Johansson, P, Johns, A, Johns, J, Johnson, R, Johnson, T, Jolly, C, Joly, Y, Jonasson, J, Jones, C, Jones, D, Jones, N, Jones, S, Jonkers, J, Ju, Y, Juhl, H, Jung, J, Juul, M, Juul, R, Juul, S, Jager, N, Kabbe, R, Kahles, A, Kahraman, A, Kakavand, H, Kalimuthu, S, von Kalle, C, Kang, K, Karaszi, K, Karlan, B, Karsch, D, Kasaian, K, Kassahn, K, Katai, H, Katoh, H, Kawakami, Y, Kay, J, Kazakoff, S, Kazanov, M, Keays, M, Kebebew, E, Kefford, R, Kellis, M, Kench, J, Kennedy, C, Kerssemakers, J, Khoo, D, Khoo, V, Khuntikeo, N, Khurana, E, Kilpinen, H, Kim, H, Kim, J, Kim, Y, King, T, Klapper, W, Kleinheinz, K, Klimczak, L, Knappskog, S, Kneba, M, Knoppers, B, Koh, Y, Komorowski, J, Komura, D, Komura, M, Kong, G, Kool, M, Korbel, J, Korchina, V, Korshunov, A, Koscher, M, Koster, R, Kote-Jarai, Z, Koures, A, Kovacevic, M, Kremeyer, B, Kretzmer, H, Kreuz, M, Krishnamurthy, S, Kube, D, Kumar, K, Kumar, P, Kumar, S, Kumar, Y, Kundra, R, Kuppers, R, Lagergren, J, Lai, P, Laird, P, Lakhani, S, Lalansingh, C, Lalonde, E, Lamaze, F, Lambert, A, Lander, E, Landgraf, P, Landoni, L, Langerod, A, Lanzos, A, Larsimont, D, Larsson, E, Lathrop, M, Lau, L, Lawerenz, C, Lawlor, R, Lawrence, M, Le, X, Lee, D, Lee, E, Lee, H, Lee, J, Lee, M, Lee-Six, H, Lehmann, K, Lehrach, H, Lenze, D, Leonard, C, Leongamornlert, D, Leshchiner, I, Letourneau, L, Letunic, I, Levine, D, Lewis, L, Ley, T, Li, H, Li, J, Li, L, Li, S, Li, X, Li, Y, Liang, H, Liang, S, Lichter, P, Lin, P, Lin, Z, Linehan, W, Lingjaerde, O, Liu, D, Liu, E, Liu, F, Liu, J, Liu, X, Livingstone, J, Livitz, D, Livni, N, Lochovsky, L, Loeffler, M, Long, G, Lopez-Guillermo, A, Lou, S, Lovat, L, Lu, Y, Luchini, C, Lungu, I, Luo, X, Luxton, H, Lynch, A, Lype, L, Lopez, C, Lopez-Otin, C, Ma, E, Ma, Y, Macgrogan, G, Macrae, S, Macintyre, G, Madsen, T, Maejima, K, Mafficini, A, Maglinte, D, Maitra, A, Majumder, P, Malcovati, L, Malikic, S, Malleo, G, Mann, G, Mantovani-Loffler, L, Marchal, K, Marchegiani, G, Mardis, E, Marin, M, Markowetz, F, Markowski, J, Marks, J, Marques-Bonet, T, Marra, M, Marsden, L, Martens, J, Martin-Subero, J, Martincorena, I, Martinez-Fundichely, A, Maruvka, Y, Mashl, R, Massie, C, Matthew, T, Matthews, L, Mayer, E, Mayes, S, Mayo, M, Mbabaali, F, Mccune, K, Mcdermott, U, Mcgillivray, P, Mclellan, M, Mcpherson, J, Mcpherson, T, Meier, S, Meng, A, Meng, S, Menzies, A, Merrett, N, Merson, S, Meyerson, M, Meyerson, W, Mieczkowski, P, Mihaiescu, G, Mijalkovic, S, Mijalkovic-Lazic, A, Mikkelsen, T, Milella, M, Mileshkin, L, Miller, C, Miller, D, Miller, J, Mills, G, Milovanovic, A, Minner, S, Miotto, M, Arnau, G, Mirabello, L, Mitchell, C, Mitchell, T, Miyano, S, Miyoshi, N, Mizuno, S, Molnar-Gabor, F, Moore, M, Moore, R, Morganella, S, Morris, Q, Morrison, C, Mose, L, Moser, C, Muinos, F, Mularoni, L, Mungall, A, Mungall, K, Musgrove, E, Mustonen, V, Mutch, D, Muyas, F, Muzny, D, Munoz, A, Myers, J, Myklebost, O, Moller, P, Nagae, G, Nagrial, A, Nakagama, H, Nakagawa, H, Nakamura, H, Nakamura, T, Nakano, K, Nandi, T, Nangalia, J, Nastic, M, Navarro, A, Navarro, F, Neal, D, Nettekoven, G, Newell, F, Newhouse, S, Newton, Y, Ng, A, Nicholson, J, Nicol, D, Nie, Y, Nielsen, M, Noble, M, Nones, K, Northcott, P, Notta, F, O'Connor, B, O'Donnell, P, O'Donovan, M, O'Meara, S, O'Neill, B, O'Neill, J, Ocana, D, Ochoa, A, Oesper, L, Ogden, C, Ohdan, H, Ohi, K, Ohno-Machado, L, Oien, K, Ojesina, A, Ojima, H, Okusaka, T, Ong, C, Ossowski, S, Ott, G, Ouellette, B, Paczkowska, M, Paiella, S, Pairojkul, C, Pajic, M, Pan-Hammarstrom, Q, 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Shelton, T, Shen, C, Shen, H, Shepherd, R, Shi, R, Shi, Y, Shiah, Y, Shih, J, Shimizu, E, Shimizu, K, Shin, S, Shiraishi, Y, Shmaya, T, Shmulevich, I, Shorser, S, Short, C, Shrestha, R, Shringarpure, S, Shriver, C, Shuai, S, Sidiropoulos, N, Sieuwerts, A, Sieverling, L, Signoretti, S, Sikora, K, Simbolo, M, Simon, R, Simons, J, Simpson, J, Simpson, P, Singer, S, Sinnott-Armstrong, N, Sipahimalani, P, Skelly, T, Smid, M, Smith-McCune, K, Socci, N, Sofia, H, Soloway, M, Song, L, Sood, A, Sothi, S, Sotiriou, C, Soulette, C, Span, P, Spellman, P, Sperandio, N, Spillane, A, Spiro, O, Spring, J, Staaf, J, Stadler, P, Staib, P, Stark, S, Stebbings, L, Stefansson, O, Stegle, O, Stenhouse, A, Stewart, C, Stilgenbauer, S, Stratton, M, Stretch, J, Struck, A, Stuart, J, Stunnenberg, H, Su, H, Su, X, Sungalee, S, Susak, H, Suzuki, A, Sweep, F, Szczepanowski, M, Sultmann, H, Yugawa, T, Tam, A, Tamborero, D, Tan, B, Tan, D, Tan, P, Tanaka, H, Taniguchi, H, Tanskanen, T, Tarabichi, M, Tarnuzzer, R, Tarpey, P, Taschuk, M, Tatsuno, K, Tavare, S, Taylor, D, Taylor-Weiner, A, Teague, J, Teh, B, Tembe, V, Temes, J, Thayer, S, Thiessen, N, Thomas, G, Thomas, S, Thompson, A, Thompson, J, Thompson, R, Thorne, H, Thorne, L, Thorogood, A, Tiao, G, Tijanic, N, Timms, L, Tirabosco, R, Tojo, M, Tommasi, S, Toon, C, Toprak, U, Torrents, D, Tortora, G, Tost, J, Totoki, Y, Townend, D, Traficante, N, Treilleux, I, Trotta, J, Trumper, L, Tsao, M, Tsunoda, T, Tubio, J, Tucker, O, Turkington, R, Turner, D, Tutt, A, Ueno, M, Ueno, N, Umbricht, C, Umer, H, Underwood, T, Urban, L, Urushidate, T, Ushiku, T, Uuskula-Reimand, L, Valencia, A, Van Den Berg, D, Van Laere, S, Van Loo, P, Van Meir, E, Van den Eynden, G, Van der Kwast, T, Vasudev, N, Vazquez, M, Vedururu, R, Veluvolu, U, Vembu, S, Verbeke, L, Vermeulen, P, Verrill, C, Viari, A, Vicente, D, Vicentini, C, Raghavan, K, Viksna, J, Vilain, R, Villasante, I, Vincent-Salomon, A, Visakorpi, T, Voet, D, Vyas, P, Vazquez-Garcia, I, Waddell, N, Wadelius, C, Wadi, L, Wagener, R, Wala, J, Wang, J, Wang, L, Wang, Q, Wang, W, Wang, Y, Wang, Z, Waring, P, Warnatz, H, Warrell, J, Warren, A, Waszak, S, Wedge, D, Weichenhan, D, Weinberger, P, Weinstein, J, Weischenfeldt, J, Weisenberger, D, Welch, I, Wendl, M, Werner, J, Whalley, J, Wheeler, D, Whitaker, H, Wigle, D, Wilkerson, M, Williams, A, Wilmott, J, Wilson, G, Wilson, J, Wilson, R, Winterhoff, B, Wintersinger, J, Wiznerowicz, M, Wolf, S, Wong, B, Wong, T, Wong, W, Woo, Y, Wood, S, Wouters, B, Wright, A, Wright, M, Wu, D, Wu, G, Wu, J, Wu, K, Wu, Y, Wu, Z, Xi, L, Xia, T, Xiang, Q, Xiao, X, Xing, R, Xiong, H, Xu, Q, Xu, Y, Xue, H, Yachida, S, Yakneen, S, Yamaguchi, R, Yamaguchi, T, Yamamoto, M, Yamamoto, S, Yamaue, H, Yang, F, Yang, H, Yang, J, Yang, L, Yang, S, Yang, T, Yang, Y, Yao, X, Yaspo, M, Yates, L, Yau, C, Ye, C, Ye, K, Yellapantula, V, Yoon, C, Yoon, S, Yu, J, Yu, K, Yu, W, Yu, Y, Yuan, Y, Yuen, D, Yung, C, Zaikova, O, Zamora, J, Zapatka, M, Zenklusen, J, Zenz, T, Zeps, N, Zhang, C, Zhang, F, Zhang, H, Zhang, X, Zhang, Y, Zhang, Z, Zhao, Z, Zheng, L, Zheng, X, Zhou, W, Zhou, Y, Zhu, B, Zhu, H, Zhu, J, Zhu, S, Zou, L, Zou, X, Defazio, A, van As, N, van Deurzen, C, van de Vijver, M, Veer, L, von Mering, C, Natural Sciences and Engineering Research Council of Canada, Canadian Institutes of Health Research, Genome Canada, Canada Foundation for Innovation, National Institutes of Health (US), National Cancer Institute (US), Pathology, CCA - Cancer biology and immunology, Graduate School, Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, CCA -Cancer Center Amsterdam, Li, Constance H. [0000-0002-5487-7225], Prokopec, Stephenie D. [0000-0001-7936-8577], Boutros, Paul C. [0000-0003-0553-7520], Apollo - University of Cambridge Repository, Tampere University, BioMediTech, TAYS Cancer Centre, Basic (bio-) Medical Sciences, Li, Constance H [0000-0002-5487-7225], Prokopec, Stephenie D [0000-0001-7936-8577], Boutros, Paul C [0000-0003-0553-7520], and Medical Oncology
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sex differences ,Male ,Colorectal cancer ,Kynferði ,02 engineering and technology ,0302 clinical medicine ,DISPARITIES ,Epidemiology of cancer ,Cancer genomics ,lcsh:Science ,Càncer ,Cancer genetics, Genome informatics, Cancer genomics, Oncogenes ,Cancer genetics ,Exome ,Cancer ,0303 health sciences ,Mutation ,Neoplasms -- genetics ,1184 Genetics, developmental biology, physiology ,Neoplasms/genetics ,3. Good health ,030220 oncology & carcinogenesis ,Medical genetics ,0210 nano-technology ,Human ,Sex characteristics ,medicine.medical_specialty ,Science ,Genomic Instability ,General Biochemistry, Genetics and Molecular Biology ,RC0254 ,Càncer -- Epidemiologia ,Open Reading Frames ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,Chromosomal Instability ,Sex differences ,Genetics ,Humans ,beta Catenin -- genetics ,Sex organ ,SIGNATURES ,45 ,RC0254 Neoplasms. Tumors. Oncology (including Cancer) ,Oncogenes ,medicine.disease ,692/4028/67/69 ,Cancérologie ,Genòmica ,Logistic Models ,030104 developmental biology ,lcsh:Q ,PCAWG Tumour Subtypes and Clinical Translation ,Human genome ,119 ,0301 basic medicine ,Medizin ,General Physics and Astronomy ,medicine.disease_cause ,Bioinformatics ,Genome informatics ,Genome ,Neoplasms ,38/23 ,Medicine and Health Sciences ,Body Size ,beta Catenin ,Sex Characteristics ,318 Medical biotechnology ,Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17] ,Multidisciplinary ,article ,3rd-DAS ,021001 nanoscience & nanotechnology ,humanities ,Women's cancers Radboud Institute for Health Sciences [Radboudumc 17] ,Causality ,oncology ,1181 Ecology, evolutionary biology ,SURVIVAL ,631/114/2785 ,Female ,Càncer -- Tractament ,Oncogenes -- genetics ,beta Catenin/genetics ,3122 Cancers ,610 Medicine & health ,QH426 Genetics ,Biology ,Cancer epidemiology ,Rare Diseases ,631/67/68 ,Krabbameinsrannsóknir ,medicine ,ddc:610 ,Gene ,QH426 ,030304 developmental biology ,Krabbamein ,Oncogenes/genetics ,Genome, Human ,Sex organs ,Human Genome ,PCAWG Consortium ,General Chemistry ,GENE ,Good Health and Well Being ,Estudis de gènere ,oncogenic mutational processes ,692/4028/67/395 ,Diferències entre sexes ,Gender studies ,3111 Biomedicine - Abstract
Publisher's version (útgefin grein), Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research., We thank all the members of the Boutros lab for insightful discussions. This study was conducted with the support of the Ontario Institute for Cancer Research to P.C.B. through funding provided by the Government of Ontario. This work was supported by the Discovery Frontiers: Advancing Big Data Science in Genomics Research program, which is jointly funded by the Natural Sciences and Engineering Research Council (NSERC) of Canada, the Canadian Institutes of Health Research (CIHR), Genome Canada and the Canada Foundation for Innovation (CFI). P.C.B. was supported by a Terry Fox Research Institute New Investigator Award and a CIHR New Investigator Award. This work was supported by an NSERC Discovery grant and by Canadian Institutes of Health Research, grant #SVB-145586, to P.C.B. This work was supported by the NIH/NCI under award number P30CA016042 and an operating grant from the National Cancer Institute Early Detection Research Network (1U01CA214194-01). We acknowledge the contributions of the many clinical networks across ICGC and TCGA who provided samples and data to the PCAWG Consortium, and the contributions of the Technical Working Group and the Germline Working Group of the PCAWG Consortium for collation, realignment and harmonised variant calling of the cancer genomes used in this study. We thank the patients and their families for their participation in the individual ICGC and TCGA projects.
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- 2020
6. Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig
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Rubanova, Y., Shi, R., Harrigan, C.F., Li, R., Wintersinger, J., Sahin, N., Deshwar, A.G., Dentro, S.C., Leshchiner, I., Gerstung, M., Jolly, C., Haase, K., Tarabichi, M., Yu, K., Gonzalez, S., Macintyre, G., Adams, D.J., Anur, P., Beroukhim, R., Boutros, P.C., Bowtell, D.D., Campbell, P.J., Cao, S., Christie, E.L., Cmero, M., Cun, Y., Dawson, K.J., Demeulemeester, J., Donmez, N., Drews, R.M., Eils, R., Fan, Y., Fittall, M., Garsed, D.W., Getz, G., Ha, G., Imielinski, M., Jerman, L., Ji, Y., Kleinheinz, K., Lee, J., Lee-Six, H., Livitz, D.G., Malikic, S., Markowetz, F., Martincorena, I., Mitchell, T.J., Mustonen, V., Oesper, L., Peifer, M., Peto, M., Raphael, B.J., Rosebrock, D., Sahinalp, S.C., Salcedo, A., Schlesner, M., Schumacher, S., Sengupta, Subhajit, Shin, S.J., Spiro, O., Stein, L.D., Vázquez-García, I., Vembu, S., Wheeler, D.A., Yang, T.-P., Yao, X., Yuan, K., Zhu, H., Wang, W., Morris, Q., Spellman, P.T., Wedge, D.C., Van Loo, P., Harrigan, Caitlin F [0000-0002-9243-9648], Morris, Quaid D [0000-0002-2760-6999], Apollo - University of Cambridge Repository, Organismal and Evolutionary Biology Research Programme, Helsinki Institute for Information Technology, Institute of Biotechnology, Bioinformatics, Department of Computer Science, Wedge, DC, and Dentro, SC
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0301 basic medicine ,Medizin ,General Physics and Astronomy ,Genome ,0302 clinical medicine ,Gene Frequency ,Ecology,Evolution & Ethology ,Neoplasms ,2.1 Biological and endogenous factors ,Computational models ,Aetiology ,lcsh:Science ,Cancer genetics ,Cancer ,Human Biology & Physiology ,Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17] ,Multidisciplinary ,Manchester Cancer Research Centre ,1184 Genetics, developmental biology, physiology ,Single Nucleotide ,Neoplasms/genetics ,Women's cancers Radboud Institute for Health Sciences [Radboudumc 17] ,3. Good health ,030220 oncology & carcinogenesis ,Mutation (genetic algorithm) ,1181 Ecology, evolutionary biology ,Genetics & Genomics ,Human ,Neutral mutation ,Evolution ,Science ,Context (language use) ,Computational biology ,Biology ,Polymorphism, Single Nucleotide ,General Biochemistry, Genetics and Molecular Biology ,Article ,Evolution, Molecular ,03 medical and health sciences ,Rare Diseases ,Genetics ,medicine ,PCAWG Evolution and Heterogeneity Working Group ,Humans ,Computer Simulation ,ddc:610 ,Polymorphism ,Allele frequency ,Computational & Systems Biology ,Whole genome sequencing ,Whole Genome Sequencing ,Genome, Human ,ResearchInstitutes_Networks_Beacons/mcrc ,Human Genome ,Molecular ,Computational Biology ,PCAWG Consortium ,General Chemistry ,Computational Biology/methods ,Tumour Biology ,medicine.disease ,113 Computer and information sciences ,030104 developmental biology ,Mutation ,Human genome ,lcsh:Q - Abstract
The type and genomic context of cancer mutations depend on their causes. These causes have been characterized using signatures that represent mutation types that co-occur in the same tumours. However, it remains unclear how mutation processes change during cancer evolution due to the lack of reliable methods to reconstruct evolutionary trajectories of mutational signature activity. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole-genome sequencing data from 2658 cancers across 38 tumour types, we present TrackSig, a new method that reconstructs these trajectories using optimal, joint segmentation and deconvolution of mutation type and allele frequencies from a single tumour sample. In simulations, we find TrackSig has a 3–5% activity reconstruction error, and 12% false detection rate. It outperforms an aggressive baseline in situations with branching evolution, CNA gain, and neutral mutations. Applied to data from 2658 tumours and 38 cancer types, TrackSig permits pan-cancer insight into evolutionary changes in mutational processes., Cancers evolve as they progress under differing selective pressures. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, the authors present the method TrackSig the estimates evolutionary trajectories of somatic mutational processes from single bulk tumour data.
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- 2020
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7. 49 Circulating cell-free tumour dna for surveillance of endometrial and ovarian carcinoma
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Lum, A, primary, Lam, S, additional, Nazeran, M, additional, Yang, W, additional, Senz, J, additional, Hernandez, R, additional, Malikic, S, additional, McConechy, M, additional, Huntsman, DG, additional, and McAlpine, J, additional
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- 2019
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8. Pan-cancer analysis of whole genomes
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Campbell, P. J. a., Abpemail, Author, Getz, G. b., C, D, Eemail, Author, Korbel, J. O. f., Gemail, Author, Stuart, hEmail Author, J. M., Jennings, J. L. i., Stein, J, L. D. k., Lemail, Author, Perry, M. D. m., Nahal-Bose, N, Ouellette, H. K. n., B. F. F. o., P, C. H. k., Li, Rheinbay, Q, E. b., E, Nielsen, R, Sgroi, G. P. r., D. C. r., Wu, C. -L. r., Faquin, W. C. r., Deshpande, V. r., Boutros, P. C. k., Q, S, Lazar, T, Hoadley, A. J. u., K. A. v., W, Louis, D. N. r., Dursi, L. J. k., Yung, X, Bailey, C. K. n., M. H. y., Z, Saksena, G. b., Raine, Abp, K. M., Buchhalter, Aa, I., Ab, Ac, Kleinheinz, Aa, K., Schlesner, Ac, Aa, M., Zhang, Ad, Wang, J. n., Ae, W., Wheeler, D. A., Af, Ding, Ag, L. y., Z, Simpson, Ah, J. T. k., Ai, O’Connor, B. D. n., Yakneen, Aj, Ellrott, S. g., Ak, K., Miyoshi, Al, N., Butler, Abp, A. P., Royo, Am, R., Shorser, S. I. k., Vazquez, Am, M., Rausch, An, Tiao, T. g., Waszak, G. b., Rodriguez-Martin, S. M. g., Ao, B., Ap, Aq, Shringarpure, Ar, S., D. -Y., As, Demidov, G. M., At, Au, Av, Delaneau, Aw, O., Ax, Ay, Hayashi, Al, S., Imoto, Habermann, N. g., Segre, A. V. b., Garrison, Az, Abp, E., Cafferkey, A. f., Alvarez, E. G., Ao, Heredia-Genestar, J. M., Ba, Muyas, At, F., Drechsel, At, O., Bruzos, Av, A. L., Ao, Temes, Ao, J., Zamora, Ap, Abp, Baez-Ortega, Bb, A., Kim, H. -L., Bc, Mashl, R. J. z., Bd, Ye, Be, K., Dibiase, Bf, Bg, A., Huang, K. -L. z., Letunic, Bh, Bi, I., Mclellan, M. D. y., Z, Ah, Newhouse, S. J. f., Shmaya, As, T., Kumar, Bj, S., Wedge, Bk, D. C., Bl, Abp, Bm, Wright, M. H., Ar, Yellapantula, V. D., Bn, Gerstein, Bo, Bj, M., Bk, Bp, Khurana, Bq, E., Br, Bs, Marques-Bonet, Bt, Bu, T., Bv, Bw, Navarro, Bx, Bu, A., Bustamante, C. D., Ar, Siebert, By, Bz, R., Nakagawa, Ca, Cb, H., Easton, D. F., Cc, Ossowski, Cd, At, S., Tubio, J. M. C., Ao, De La Vega, F. M., Ar, As, By, Estivill, At, X., Yuen, Ce, Mihaiescu, D. k., Omberg, G. L. n., Cf, L., Ferretti, V. n., Sabarinathan, Cg, Ch, R., Ci, Cj, Pich, Ch, O., Gonzalez-Perez, Cj, Ch, A., Taylor-Weiner, Cj, Ck, A., Fittall, M. W., Cl, Demeulemeester, Cl, J., Tarabichi, Cm, Cl, M., Abp, Roberts, Abp, N. D., Van, Loo, Cl, P., Cortés-Ciriano, Cm, Cn, I., Co, Cp, Urban, L. f., Park, G, Co, P., Zhu, Cp, Cq, B., Pitkänen, E. g., Abp, Y., Saini, Cr, N., Klimczak, L. J., Cs, Weischenfeldt, J. g., Ct, Cu, Sidiropoulos, Cu, N., Alexandrov, L. B., Cv, Abp, Rabionet, At, R., Av, Cw, Escaramis, At, G., Cx, Cy, Bosio, At, Av, Holik, A. Z., At, Susak, At, H., Prasad, Av, Av, A., Erkek, S. g., Calabrese, C. f., Raeder, G, Harrington, B. g., Cz, E., Mayes, Da, S., Turner, Da, D., Juul, Cz, S., Roberts, S. A., Db, Song, Cq, L., Koster, Dc, R., Mirabello, Hua, Cq, X., Tanskanen, T. J., Dd, Tojo, Aq, M., Chen, Bk, J., Aaltonen, De, L. A., Df, Rätsch, Dg, G., Dh, Di, Dj, Dk, Schwarz, Dl, R. F. f., Dm, Dn, Do, Butte, A. J., Dp, Brazma, A. f., Chanock, S. J., Cq, Chatterjee, Dq, N., Stegle, Dr, O. f., G, Harismendy, Ds, Dt, O., Bova, G. S., Du, Gordenin, D. A., Cr, Haan, D. h., Sieverling, Dv, L., Feuerbach, Dw, Chalmers, Dx, D., Joly, Dy, Y., Knoppers, Dy, B., Molnár-Gábor, Dz, F., Phillips, Dy, M., Thorogood, Dy, A., Townend, Dy, D., Goldman, Ea, M., Fonseca, N. A. f., Xiang, Eb, Craft, Q. n., Ea, B., Piñeiro-Yáñez, Ec, E., Muñoz, A. f., Petryszak, R. f., Füllgrabe, A. f., Al-Shahrour, Ec, F., Keays, M. f., Haussler, Ea, D., Weinstein, Ed, Ee, J., Huber, Ef, Valencia, W. g., Am, A., Papatheodorou, Bw, Zhu, I. f., Ea, J., Fan, Ae, Y., Torrents, Am, D., Bieg, Bw, Eg, M., Chen, Eh, Ei, K., Chong, Ej, Z., Cibulskis, K. b., Eils, Aa, R., Ac, Ek, Fulton, El, R. S. y., Z, Gelpi, Ah, J. L., Am, Gonzalez, Em, S. f., G, Gut, I. G., Av, Hach, Bu, En, F., Heinold, Eo, Ac, Hu, Ep, T., Huang, V. k., Hutter, Eh, B., Eq, Er, Jäger, Aa, N., Jung, Es, J., Ep, Y., Lalansingh, C. k., Leshchiner, I. b., Livitz, D. b., E. Z., Ep, Maruvka, Y. E. b., R, Et, Milovanovic, Nielsen, M. M., Eu, Paramasivam, Pedersen, Eh, J. S., Eu, Puiggròs, Ev, Sahinalp, S. C., Eo, Ew, Ex, Sarrafi, Eo, I., Stewart, Ex, Stobbe, C. b., M. D., Av, Wala, Bu, J. A. b., E, Wang, Ey, J. z., Be, Wendl, Ez, M. z., Fa, Werner, Fb, Aa, J., Fc, Wu, Ep, Z., Xue, Ep, H., Yamaguchi, T. N. k., Bn, V., Davis-Dusenbery, Bo, B. N., Fd, Grossman, R. L., Fe, Ff, Y., Heinold, Fg, M. C., Aa, Hinton, Ac, Abp, J., Jones, Abp, D. R., Menzies, Abp, A., Stebbings, Abp, L., Hess, J. M. b., Rosenberg, Et, M. b., R, Dunford, A. J. b., Gupta, M. b., Imielinski, Fh, M., Meyerson, Fi, M. b., E, Beroukhim, Ey, R. b., E, Reimand, Fj, J. k., Q, Dhingra, Br, P., Favero, Bt, Fk, F., Dentro, Bl, S., Abp, Cl, Wintersinger, Fl, J., Fm, Fn, Rudneva, V. g., Park, J. W., Fo, Hong, E. P., Fo, Heo, S. G., Fo, Kahles, Dg, A., Lehmann, K. -V., Dg, Di, Dj, Fp, Fq, Soulette, C. M., Aj, Shiraishi, Al, Y., Liu, Fr, F., Fs, He, Fr, Y., Demircioğlu, Ft, D., Davidson, Fu, N. R., Dg, Dl, Fp, Greger, L. f., Fv, S., Liu, Fw, Fv, D., Stark, Fw, S. G., Dj, Fp, Fx, Zhang, Fy, Amin, S. B., Fz, Ga, Gb, Bailey, Gc, P., Chateigner, A. n., Frenkel-Morgenstern, Gd, M., Hou, Fv, Y., Huska, Fw, M. R., Dm, Kilpinen, Ge, H., Lamaze, F. C. k., Fv, C., Fw, Li, Fv, X., Marin, Fw, M. G., Aj, Markowski, Dm, J., Nandi, Gf, T., Ojesina, A. I., Gg, Gh, Gi, Pan-Hammarström, Fv, Q., Park, Gj, P. J., Co, Pedamallu, Cp, C. S. b., E, Fj, Su, Fv, H., Tan, Fw, Gf, P., Gk, Gl, Teh, Gm, B. T., Gk, Gl, Gm, Gn, Go, Wang, Fv, J., Xiong, Fw, Ye, Yung, Fw, Zhang, C. n., Zheng, Fr, L., Zhu, Awadalla, Fw, P. k., L, Creighton, C. J., Gp, Fv, K., Yang, Fw, Göke, Ft, J., Zhang, Gq, Fr, Z., Brooks, Gr, A. N. b., Aj, Fittall, Ey, Martincorena, Abp, I., Rubio-Perez, Ch, C., Cj, Gs, Eu, M., Schumacher, S. b., Shapira, Gt, O. b., Ey, Tamborero, Ch, D., Mularoni, Cj, Ch, L., Hornshøj, Cj, Eu, H., Deu-Pons, Cj, J., Muiños, Gu, Ch, F., Bertl, Cj, Eu, J., Guo, Gv, Ev, Q., Gonzalez-Perez, Cj, Gw, Xiang, Gx, Q., Bazant, W. f., Barrera, E. f., Al-Sedairy, S. T., Gy, Aretz, Gz, A., Bell, Ha, C., Betancourt, Hb, M., Buchholz, Hc, C., Calvo, Hd, F., Chomienne, He, C., Dunn, Hf, M., Edmonds, Hg, S., Green, Hh, E., Gupta, Hi, S., C. M., Hh, Jegalian, Hj, K., Hk, N., Hl, Y., Hm, Hn, Nakagama, Ho, H., Nettekoven, Hp, G., Planko, Hp, L., Scott, Hk, D., Shibata, Hq, T., Shimizu, Hr, Hs, K., Stratton, Abp, M. R., Yugawa, Hs, T., Tortora, Ht, G., Vijayraghavan, Hu, Hi, K., Zenklusen, J. C., Hv, Hw, D., B. M., Dy, Aminou, B. n., Bartolome, Am, J., Boroevich, K. A., Cb, Boyce, Hx, Buchanan, R. f., Ak, A., Byrne, N. J. n., Hy, Z., Cho, Hz, S., Choi, Ia, W., Clapham, Abp, P., Dow, M. T., Hy, Eils, X, Ek, J., Farcas, El, Hy, C., Fayzullaev, N. n., Flicek, P. f., Heath, A. P., Ib, Hofmann, Ic, O., J. H., Id, Hudson, T. J., Ie, Hübschmann, If, Ac, D., Do, Ek, Ig, Ih, Ivkovic, Ii, S., Jeon, S. -H., Ia, Jiao, W. k., Kabbe, Dj, Fq, Kerssemakers, J. N. A., Aa, Ia, H., Ij, J., Koscher, Ik, M., Koures, Hy, A., Kovacevic, Ii, M., Lawerenz, El, C., Il, J., Mijalkovic, Mijalkovic-Lazic, A. M., Ii, Miyano, Nastic, Nicholson, Ocana, D. f., Ohi, Al, K., Ohno-Machado, Hy, L., Pihl, T. D., Im, Prinz, Radovic, Ii, P., Short, C. f., Sofia, H. J., Hh, Spring, Fe, J., Struck, A. J., Ak, Tijanic, Ii, N., Vicente, Hv, Z., Williams, Woo, Ia, Y., Wright, A. J. k., Yang, Hv, L., Hamilton, M. P., In, Johnson, T. A., Hx, Kahraman, Io, A., Ip, Iq, Kellis, M. b., Polak, Ir, P. b., C, Sallari, E, Sinnott-Armstrong, R. b., N. b., Ar, Von, Mering, Iq, C., Beltran, Is, Av, S., Gerhard, Bu, D. S., It, Av, M., Trotta, Bu, J. -R., Bu, Whalley, J. P., Bu, Niu, Iu, B., Espiritu, S. M. G. k., Gao, Ez, Y., Lalansingh, Iv, Teague, C. M. k., Abp, J. W., Wendl, M. C. z., Fa, Fb, Abascal, Abp, F., Bader, G. D. l., Bandopadhayay, P. b., Iw, Ix, Barenboim, J. k., Brunak, Iy, S., Carlevaro-Fita, Iz, Ja, J., Jb, Jc, Chakravarty, Jd, D., Chan, Je, C. W. Y., Aa, Choi, Dw, J. K., Jf, Diamanti, Jg, K., Fink, Frigola, Jh, Gu, J., Gambacorti-Passerini, Ji, C., Garsed, D. W., Jj, Haradhvala, N. J. b., Harmanci, R, A. O., Bk, Helmy, Jk, Fm, M., Herrmann, Aa, C., Ac, Jl, Hobolth, Ev, A., Hodzic, Gv, Ex, E., Dv, C., Isaev, Dw, K. k., Q, Izarzugaza, J. M. G., Iy, Jb, R., Juul, Jm, R. I., Eu, Kim, J. b., J. K., Jn, Jan, Komorowskijg, Lanzós, Jo, Jb, A., Jc, Jm, Larsson, Dg, E., Lee, Bk, D., Bk, S., Bk, X., Lin, Z. b., Liu, Jp, E. M., Br, Bt, Jq, Lochovsky, Bj, L., Bk, Gb, Lou, Madsen, Bk, Eu, T., Marchal, Jr, K., Martinez-Fundichely, Js, Br, A., Bs, Bt, Mcgillivray, P. D., Bj, Meyerson, Bk, W., Paczkowska, Jt, Park, M. k., Ju, K., Park, Jv, Jw, K., Pons, Jx, T., Pulido-Tamayo, Jr, S., Reyes-Salazar, Js, Ch, I., Reyna, M. A., Jy, Rubin, M. A., Jm, Jz, Ka, Kb, Kc, Salichos, Sander, Bk, Dg, C., Ey, Kd, Schumacher, Ke, S. E. b., Gt, Shackleton, Jj, M., Shen, Ke, C., Shrestha, Kf, Eo, R., Shuai, S. k., Tsunoda, L, Hx, T., Kg, Kh, Umer, Ki, H. M., Jg, Uusküla-Reimand, Kj, Kk, L., Verbeke, Kl, L. P. C., Js, Wadelius, Km, Kn, C., Wadi, L. k., Warrell, Bj, J., Bk, Wu, Ko, G., Kp, J., Zhang, Ez, X., Zhang, Kq, Bk, Y., Kr, Ks, Zhao, Kt, Z., Zou, Ku, L., Lawrence, M. S. b., R, Hx, Raphael, B. J., Jy, P. J., Gc, Craft, D. b., Goldman, Kv, M. J., Ea, Aburatani, Kw, H., Binder, Kx, H., Dinh, Ky, H. Q., Kz, S. C., Av, Hoffmann, Bu, Kx, S., Ky, La, Imbusch, Lb, C. D., Dv, Kretzmer, Ky, H., Laird, Lb, P. W., Lc, Martin-Subero, J. I., Bw, Nagae, Ld, Kw, G., Shen, Le, Lf, H., Ik, Q., Weichenhan, Lg, D., Zhou, Lf, W., Berman, B. P., Kz, Lh, Li, Brors, Dv, B., Er, Lj, Plass, Lg, C., Akdemir, K. C., Ei, Bowtell, D. D. L., Jj, Burns, K. H., Lk, Busanovich, Ll, J. b., Lm, Chan, Ln, K., Dueso-Barroso, Edwards, P. A., Lo, Etemadmoghadam, Lp, Jj, D., Haber, J. E., Lq, D. T. W., Lr, Ls, Ju, Y. S., Jf, Abp, Kazanov, M. D., Lt, Lu, Lv, Koh, Lw, Y., Kumar, Lx, Lee, K. b., E. A., Ly, J. J. -K., Co, Lynch, Cp, A. G., Lo, Lp, Lz, Macintyre, Lo, G., Markowetz, Lo, F., Navarro, Lp, F. C. P., Bj, Pearson, J. V., Ma, Rippe, Mb, Do, K., Scully, Mc, R., Villasante, Am, I., Waddell, Ma, N., Yang, Mb, Md, L., Yao, Fh, X., Yoon, Me, S. -S., Lx, C. -Z. b., E, Ey, Bergstrom, E. N., Mf, Boot, Gl, A., Covington, Mg, Ag, K., Fujimoto, Cb, A., M. N., Gl, Islam, Mg, S. M. A., Cv, Mcpherson, J. R., Gl, Morganella, Mg, Abp, S., Mustonen, Mh, V., Mi, Mj, A. W. T., Mk, Prokopec, S. D. k., Vázquez-García, Bn, I., Ml, Mm, Abp, Wu, Gl, Y., Yousif, Mg, F. k., Yu, Mn, W., Rozen, S. G., Gl, Gm, Mg, Rudneva, V. A. g., S. S., Ar, D. J., Da, Xia, Mo, T., Atwal, G. k., L, Fn, Chang, D. K., Gc, Cooke, Mp, S. L., Gc, Faltas, B. M., Dl, Haider, S. k., Kaiser, V. B., Mq, Karlić, Mr, R., Kato, Ms, M., Kübler, K. b., E, R, Margolin, Martin, Mt, S., Abp, Nik-Zainal, Mu, S., Mv, Mw, Abp, P’Ng, Semple, C. k., C. A., Mq, Smith, Ak, J., Sun, R. X. k., Thai, K. n., D. W., Mx, Yuan, My, Lo, K., Mt, Mz, Biankin, A. V., Gc, Mp, Na, Garraway, Nb, Ey, L., Grimmond, S. M., Nc, Adams, Abp, D. J., Anur, Nd, P., Cao, Ae, S., Christie, E. L., Jj, Cmero, Ne, M., Nf, Ng, Cun, Nh, Y., Dawson, Abp, K. J., S. C., Bl, Deshwar, A. G., Ni, Donmez, Eo, N., Drews, Ex, R. M., Lo, Gerstung, M. f., G, Ha, Haase, G. b., Cl, K., Jerman, L. g., Nj, Ji, Nk, Y., Jolly, Nl, Cl, C., Nm, J., Lee-Six, Abp, H., Malikic, Eo, S., Mitchell, Ex, T. J., Lp, Abp, Nn, Morris, Q. D., Fn, Oesper, No, Np, L., Peifer, Nh, M., Peto, Nq, M., Rosebrock, D. b., Rubanova, Ai, Y., Salcedo, Fn, Sengupta, A. k., Nr, S., Shi, No, R., Shin, S. J., Fy, Spiro, O. b., Vembu, No, S., Wintersinger, Ns, J. A., Fl, T. -P., Nh, Nt, K., Nu, H., Spellman, Nv, P. T., Nw, Weinstein, J. N., Ee, Chen, Ef, Fujita, Cb, M., Han, Kq, L., Hasegawa, Al, T., Komura, Al, M., Ae, J., Mizuno, Nx, S., Shimizu, Al, E., Ny, Xu, Nz, Y., Yamaguchi, Al, R., No, F., Kq, Y., Yoon, C. J., Jf, Yuan, Liang, Ae, H., Alawi, Oa, M., Borozan, Ob, Brewer, I. k., D. S., Oc, Cooper, Od, C. S., Od, Oe, Of, Desai, N. n., Grundhoff, Oa, A., Iskar, Og, Oh, M., Oi, X., Zapatka, Lichter, Eq, P., Alsop, Oh, Jj, K., Bruxner, T. J. C., Jh, Christ, A. N., Jh, Cordner, S. M., Oj, Cowin, P. A., Ok, Drapkin, Ol, R., Fereday, Ok, S., George, Gb, J., Ok, A., Holmes, Ma, O., Hung, Mb, J. A., Om, Kassahn, On, K. S., Jh, Kazakoff, Oo, S. H., Ma, Kennedy, Mb, C. J., Op, Leonard, Oq, C. R., Ma, Mileshkin, Mb, Jj, L., Miller, D. K., Jh, Mp, Or, Arnau, G. M., Ok, Mitchell, Ok, C., Newell, Ma, F., Nones, Mb, Ma, K., Patch, Mb, A. -M., Ma, Quinn, Mb, M. C., Ma, Taylor, Mb, D. F., Jh, Thorne, Ok, H., Traficante, Ok, N., Vedururu, Ok, R., N. M., Mb, Waring, P. M., Os, Wood, Ma, S., Mb, Xu, Ma, Q., Defazio, Mb, Ot, A., Ou, Ov, Anderson, M. J., Jh, Antonello, Ow, D., Barbour, A. P., Ox, Bassi, Oy, Ow, C., Bersani, Oz, S., Cataldo, Oz, I., Chantrill, Pa, L. A., Mp, Chiew, Pb, Y. -E., Ot, Chou, Mp, A., Cingarlini, Pc, Ht, S., Cloonan, Pd, N., Corbo, Pa, V., Davi, Pe, M. V., Pf, Duthie, F. R., Gc, Gill, Pg, A. J., Mp, Graham, Pc, J. S., Gc, Harliwong, Ph, Jh, I., Jamieson, N. B., Gc, Nb, Pi, Johns, A. L., Mp, Kench, Or, J. G., Mp, Pc, Pj, Landoni, Ow, L., Lawlor, R. T., Pa, Mafficini, Pa, A., Merrett, N. D., Ow, Miotto, Pk, Ow, M., Musgrove, E. A., Gc, Nagrial, A. M., Mp, Oien, K. A., Os, Pajic, Pl, Mp, M., Pinese, Pm, M., Robertson, A. J., Jh, Rooman, Mp, I., Rusev, B. C., Pa, Samra, J. S., Ow, Scardoni, Pc, Oz, M., Scarlett, C. J., Mp, Scarpa, Pn, Sereni, Ow, E., Sikora, K. O., Pa, Simbolo, Pe, M., Taschuk, M. L. n., Toon, C. W., Mp, Vicentini, Pa, C., Mp, J., Zeps, Po, N., Behren, Pp, Pq, A., Burke, Pr, H., Cebon, Pq, J., Dagg, R. A., Ps, Paoli-Iseppi, De, Pt, R., Dutton-Regester, Field, M. A., Pu, Fitzgerald, Pv, A., Hersey, Pr, P., Jakrot, Pr, V., Johansson, P. A., Ma, Kakavand, Pt, H., Kefford, R. F., Pw, Lau, L. M. S., Px, Long, G. V., Py, Pickett, H. A., Px, Pritchard, A. L., Ma, Pupo, G. M., Pz, Saw, R. P. M., Py, Schramm, S. -J., Qa, Shang, C. A., Pv, Py, P., Spillane, A. J., Py, Stretch, J. R., Py, Tembe, Ot, V., Thompson, Qa, J. F., Py, Vilain, R. E., Qb, Wilmott, J. S., Py, J. Y., Qc, Hayward, N. K., Ma, Mann, Pr, G. J., Ot, Scolyer, Qd, R. A., Ou, Py, Qb, Bartlett, Qe, Qf, J., Bavi, Qg, Qh, P., Chadwick, D. E., Qi, Chan-Seng-Yue, Qh, M., Cleary, Qh, S., Connor, Qj, A. A., Qj, Czajka, Qk, If, K., Denroche, R. E., Qh, Dhani, N. C., Ql, Eagles, If, J., Gallinger, Qj, Qk, Grant, R. C., Qh, Hedley, Qk, Ql, D., Hollingsworth, M. A., Qm, Jang, G. H., Qh, Kalimuthu, S. -B., Qn, Lungu, Qh, I., Luo, Qo, Mbabaali, X. k., If, F., T. A., Qk, J. K., If, Moore, M. J., Ql, Notta, Qh, F., Pasternack, Qp, If, D., Petersen, G. M., Qq, Roehrl, M. H. A. q., Qh, Qr, Qs, Qt, Sam, If, M., Selander, Qk, I., Serra, Os, S., Shahabi, Qn, S., Thayer, S. P., Qm, Timms, L. E., If, Wilson, G. W. k., Wilson, Qh, J. M., Qh, Wouters, B. G., Qu, J. D., If, Qh, Qv, Beck, T. A. n., Bhandari, Qw, Collins, V. k., C. C., Eo, Fleshner, N. E., Qx, Fox, N. S. k., Fraser, M. k., Heisler, L. E., Qy, Lalonde, E. k., Livingstone, J. k., Meng, Qz, A., Sabelnykova, V. Y. k., Shiah, Y. -J. k., Van der Kwast, Ra, T., Bristow, R. G. q., Rb, Rc, Rd, Re, Ding, Rf, S., Rg, D., Fv, L., Nie, Rg, Y., Xiao, Rh, Xing, Hm, R., Yang, Ri, Rj, Y., Banks, R. E., Rk, Bourque, Rl, G., Brennan, Rm, Rn, P., Letourneau, Ro, L., Riazalhosseini, Rm, Y., Scelo, Rn, G., Vasudev, Rk, N., Viksna, Rp, Rq, J., Lathrop, Rm, M., Tost, Rr, J., Ahn, S. -M., Rs, Aparicio, Rt, S., Arnould, Ru, L., Aure, M. R., Rv, Bhosle, Abp, S. G., Birney, E. f., Borg, Rw, A., Boyault, Rx, S., Brinkman, A. B., Ry, Brock, J. E., Rz, Broeks, Sa, A., Børresen-Dale, A. -L., Rv, Caldas, Sb, C., Chin, Sc, S. -F., Sb, Davies, Sc, Mu, H., Abp, Mv, Desmedt, Sd, C., Dirix, Se, Sf, L., Dronov, Ehinger, Sg, A., Eyfjord, J. E., Sh, Fatima, Gt, A., Foekens, J. A., Si, Futreal, P. A., Sj, Garred, Sk, Ø., Giri, Sl, D. D., Sm, Glodzik, Abp, D., Grabau, Sn, D., Hilmarsdottir, Sh, H., Hooijer, G. K., So, Jacquemier, Sp, J., S. J., Sq, Jonasson, J. G., Sh, Jonkers, Sr, J., H. -Y., Sp, King, T. A., Ss, Knappskog, St, Su, S., Abp, Kong, Sp, G., Krishnamurthy, Sv, S., Lakhani, S. R., Sw, Langerød, Rv, A., Larsimont, Sx, D., H. J., Sq, J. -Y., Sy, M. T. M., Sj, Lingjærde, O. C., Sz, Macgrogan, Ta, G., Martens, J. W. M., Si, O’Meara, Pauporté, He, I., Pinder, Tb, S., Pivot, Tc, X., Provenzano, Td, E., Purdie, C. A., Te, Ramakrishna, Abp, M., Ramakrishnan, Abp, K., Reis-Filho, Sm, J., Richardson, A. L., Gt, Ringnér, Rw, M., Rodriguez, J. B., Am, Rodríguez-González, F. G., Iz, Romieu, Tf, G., Salgado, Os, R., Sauer, Sz, T., Shepherd, Abp, R., Sieuwerts, A. M., Si, Simpson, P. T., Sw, Smid, Si, M., Sotiriou, Span, P. N., Tg, Stefánsson, Ó. A., Th, Stenhouse, Ti, A., Stunnenberg, H. G., Fw, Sweep, Tj, Tk, F., Tan, B. K. T., Tl, Thomas, Tm, G., Thompson, A. M., Ti, Tommasi, Tn, S., Treilleux, To, I., Tutt, Tp, Ueno, N. T., Nv, Van, Laere, Sf, S., Van den Eynden, G. G., Sf, Vermeulen, Sf, P., Viari, Vincent-Salomon, Tj, A., Wong, B. H., Tq, Yates, Abp, X., Van, Deurzen, C. H. M., Tr, van de Vijver, M. J., Os, Van’T, Veer, Ts, L., Ammerpohl, Tt, O., Tu, Tv, Aukema, Tu, S., Tv, Tw, Bergmann, A. K., Tx, Bernhart, S. H., Kx, Ky, Lb, Borkhardt, Ty, A., Borst, Tz, C., Burkhardt, Ua, B., Claviez, Ub, A., Goebler, M. E., Uc, Haake, Tt, A., Haas, Tz, S., Hansmann, Ud, M., Hoell, J. I., Ty, Hummel, Ue, M., Karsch, Uf, D., Klapper, Tw, W., Kneba, Uf, M., Kreuz, Ug, M., Kube, Uh, D., Küppers, Ui, R., Lenze, Ue, D., Loeffler, López, Ca, C., Mantovani-Löffler, Tt, Uj, L., Möller, Uk, P., Ott, Ul, G., Radlwimmer, Oh, B., Richter, Tt, J., Rohde, Tw, Um, M., Rosenstiel, P. C., Un, Rosenwald, Uo, A., Schilhabel, M. B., Un, Schreiber, Up, S., Stadler, P. F., Kx, Staib, Uq, P., Stilgenbauer, Ur, S., Sungalee, S. g., Szczepanowski, Tw, M., Toprak, U. H., Ac, Trümper, Us, L. H. P., Uh, Wagener, Ca, R., Zenz, Tt, Er, T., Hovestadt, Oh, V., Von, Kalle, Do, C., Kool, Korshunov, Lr, Ik, A., Landgraf, Ut, P., Lehrach, Uu, Uv, H., Northcott, P. A., Uw, Pfister, S. M., Ik, Lr, Ux, Reifenberger, Uu, G., Warnatz, H. -J., Uv, Wolf, Uy, S., Yaspo, M. -L., Uv, Assenov, Uz, Y., Gerhauser, Minner, Va, S., Schlomm, Ct, T., Simon, Vb, Vc, R., Sauter, Vc, G., Sültmann, Er, H., Biswas, Vd, N. K., Ve, Maitra, Ve, A., Majumder, P. P., Ve, Sarin, Vf, R., Barbi, Pe, S., Bonizzato, Pa, G., Cantù, Dei, Tos, A. P., Vg, Fassan, Vh, M., Grimaldi, Pa, S., Luchini, Oz, C., Malleo, Ow, G., Marchegiani, Milella, Michele, Ht, M., Paiella, Ow, S., Pea, Ow, A., Pederzoli, Ow, P., Ruzzenente, Salvia, Ow, R., Sperandio, Pa, N., Arai, Hq, Y., Hama, Hq, N., Hiraoka, Vi, N., Hosoda, Hq, F., Nakamura, Hq, H., Ojima, Vj, H., Okusaka, Vk, T., Totoki, Urushidate, Hr, T., Fukayama, Vl, M., Ishikawa, Vm, S., Katai, Vn, H., Katoh, Vm, H., Vm, D., Rokutan, Ms, H., Saito-Adachi, Suzuki, Kw, A., Taniguchi, Vo, Vp, H., Tatsuno, Kw, K., Ushiku, Vl, T., Yachida, Hq, S., Yamamoto, Vq, Kw, S., Aikata, Vr, H., Arihiro, Vr, K., Ariizumi, S. -I., Vs, Chayama, Furuta, Gotoh, Vt, K., Hayami, Vu, S., Hirano, Vv, S., Kawakami, Vr, Y., Maejima, Cb, K., Vv, T., Nakano, Ohdan, Sasaki-Oku, Tanaka, Al, H., Vu, M., Yamamoto, Vs, M., Yamaue, Vu, H., Choo, S. P., Vw, Cutcutache, Gl, I., Khuntikeo, Mg, Ow, N., Ong, Vx, C. K., Vy, Pairojkul, Os, C., Popescu, Vz, I., K. S., Wa, Aymerich, Wb, M., Lopez-Guillermo, Wc, A., López-Otín, Wd, C., Puente, X. S., Wd, Campo, We, E., Amary, Wf, Wg, F., Baumhoer, Wh, D., Behjati, Bjerkehagen, Wh, B., Futreal, Wi, Myklebost, Su, O., Pillay, Wj, N., Tarpey, Wk, P., Tirabosco, Wl, R., Zaikova, Wm, O., Flanagan, A. M., Wn, Boultwood, Wo, J., Bowen, Abp, D. T., Cazzola, Wp, M., A. R., Lp, Hellstrom-Lindberg, Wq, E., Malcovati, Wp, L., Nangalia, Wr, J., Papaemmanuil, Vyas, Ma, P., Ang, Ws, Wt, Y., Barr, Wu, H., Beardsmore, Wv, D., Eldridge, Lo, M., Gossage, Ww, J., Grehan, Mv, N., Hanna, G. B., Wx, Hayes, S. J., Wy, Hupp, Wz, T. R., Xa, Khoo, Xb, D., Lagergren, Wq, J., Lovat, Xc, L. B., Ge, Macrae, Ee, S., O’Donovan, Mv, M., O’Neill, J. R., Xd, Parsons, S. L., Xe, Preston, S. R., Xf, Puig, Xg, S., Roques, Xh, T., Sanders, G. w., Sothi, Xi, S., Tavaré, Lo, S., Tucker, Xj, O., Turkington, Xk, R., Underwood, T. J., Xl, Welch, Xm, I., R. C., Mv, Berney, D. M., Xn, Bono, De, J. S., Oe, Cahill, Xo, D., Camacho, Oe, N., Dennis, N. M., Xo, Dudderidge, Xo, T., Edwards, Xp, S. E., Oe, Fisher, Xo, C., Foster, C. S., Xq, Ghori, Xr, Gill, Ws, P., Gnanapragasam, V. J., Nn, Gundem, Xs, Jq, G., Hamdy, F. C., Xt, Hawkins, Hazell, Xo, S., Howat, Nn, W., Isaacs, W. B., Xu, Karaszi, Ws, K., Kay, J. D., Ge, Xo, V., Kote-Jarai, Oe, Z., Kremeyer, Abp, B., Xo, P., Lambert, Ws, A., Leongamornlert, D. A., Oe, Abp, Livni, Xo, N., Y. -J., Xn, Luxton, Xv, H. J., Ge, Marsden, Ws, L., Massie, C. E., Lo, Matthews, Oe, L., Mayer, Xo, E., Mcdermott, Xw, Abp, U., Merson, Oe, S., Neal, D. E., Lo, Nn, Ng, Xx, A., Nicol, Ogden, Rowe, E. W., Xo, Shah, N. C., Nn, Xo, A., Verrill, Ws, C., Visakorpi, Xy, Du, T., Warren, A. Y., Nn, Whitaker, Xz, H. C., Ge, Xv, H., Van, As, Eeles, R. A., Oe, Abeshouse, Xo, Jq, A., Agrawal, Fe, N., Akbani, Mv, R., Al-Ahmadie, Ya, Jq, H., Albert, Qg, M., Aldape, Oi, K., Ally, Yb, Yc, A., Appelbaum, E. L. z., Armenia, Ge, Yd, J., Asa, Xe, S., Auman, Ye, J. 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B., Xg, Tsao, Xe, M., Umbricht, Ye, Lk, C., Abg, Wv, Van Den Berg, D. J., Ym, Van, Meir, Abh, E. G., Veluvolu, U. v., Voet, D. b., Weinberger, Abi, P., Weisenberger, Wigle, Abj, D., Wilkerson, M. D. v., Wilson, R. K. z., Abk, Winterhoff, Abl, B., Wiznerowicz, Abm, M., Abn, Wong, T. z., Yc, Abo, W., Yau, Zhang, H. b., Yd, H., Hv, J., The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium View Correspondence (jump link), Medical Oncology, Pathology, IBM, Pharmacyclics, Novartis, Celgene, AstraZeneca, Bayer, Janssen Biotech, University of Chicago, Ipsen, Pfizer, Ono Pharmaceutical, Ariad Pharmaceuticals, Gilead Sciences, Bristol-Myers Squibb, University of St Andrews. School of Medicine, University of St Andrews. Statistics, University of St Andrews. Sir James Mackenzie Institute for Early Diagnosis, University of St Andrews. Cellular Medicine Division, RS: CAPHRI - R4 - Health Inequities and Societal Participation, Metamedica, Háskóli Íslands, University of Iceland, Faculty of Medicine, University of Helsinki, Department of Medical and Clinical Genetics, Research Programs Unit, Lauri Antti Aaltonen / Principal Investigator, ATG - Applied Tumor Genomics, Helsinki Institute of Life Science HiLIFE, Organismal and Evolutionary Biology Research Programme, Helsinki Institute for Information Technology, Institute of Biotechnology, Bioinformatics, Department of Computer Science, STEMM - Stem Cells and Metabolism Research Program, Centre of Excellence in Stem Cell Metabolism, Genome-Scale Biology (GSB) Research Program, Department of Physics, HUS Helsinki and Uusimaa Hospital District, University of Zurich, ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Apollo - University of Cambridge Repository, Graduate School, Laboratory Genetic Metabolic Diseases, AGEM - Endocrinology, metabolism and nutrition, 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C, Malleo, G, Marchegiani, G, Milella, M, Paiella, S, Pea, A, Pederzoli, P, Ruzzenente, A, Salvia, R, Sperandio, N, Arai, Y, Hama, N, Hiraoka, N, Hosoda, F, Nakamura, H, Ojima, H, Okusaka, T, Totoki, Y, Urushidate, T, Fukayama, M, Ishikawa, S, Katai, H, Katoh, H, Komura, D, Rokutan, H, Saito-Adachi, M, Suzuki, A, Taniguchi, H, Tatsuno, K, Ushiku, T, Yachida, S, Yamamoto, S, Aikata, H, Arihiro, K, Ariizumi, S, Chayama, K, Furuta, M, Gotoh, K, Hayami, S, Hirano, S, Kawakami, Y, Maejima, K, Nakamura, T, Nakano, K, Ohdan, H, Sasaki-Oku, A, Tanaka, H, Ueno, M, Yamamoto, M, Yamaue, H, Choo, S, Cutcutache, I, Khuntikeo, N, Ong, C, Pairojkul, C, Popescu, I, Ahn, K, Aymerich, M, Lopez-Guillermo, A, Lopez-Otin, C, Puente, X, Campo, E, Amary, F, Baumhoer, D, Behjati, S, Bjerkehagen, B, Myklebost, O, Pillay, N, Tarpey, P, Tirabosco, R, Zaikova, O, Flanagan, A, Boultwood, J, Bowen, D, Cazzola, M, Green, A, Hellstrom-Lindberg, E, Malcovati, L, Nangalia, J, Papaemmanuil, E, Vyas, P, Ang, Y, Barr, H, Beardsmore, D, Eldridge, M, Gossage, J, Grehan, N, Hanna, G, Hayes, S, Hupp, T, Khoo, D, Lagergren, J, Lovat, L, Macrae, S, O'Donovan, M, O'Neill, J, Parsons, S, Preston, S, Puig, S, Roques, T, Sanders, G, Sothi, S, Tavare, S, Tucker, O, Turkington, R, Underwood, T, Welch, I, Fitzgerald, R, Berney, D, De Bono, J, Cahill, D, Camacho, N, Dennis, N, Dudderidge, T, Edwards, S, Fisher, C, Foster, C, Ghori, M, Gill, P, Gnanapragasam, V, Gundem, G, Hamdy, F, Hawkins, S, Hazell, S, Howat, W, Isaacs, W, Karaszi, K, Kay, J, Khoo, V, Kote-Jarai, Z, Kremeyer, B, Kumar, P, Lambert, A, Leongamornlert, D, Livni, N, Luxton, H, Marsden, L, Massie, C, Matthews, L, Mayer, E, Mcdermott, U, Merson, S, Neal, D, Nicol, D, Ogden, C, Rowe, E, Shah, N, Thomas, S, Verrill, C, Visakorpi, T, Warren, A, Whitaker, H, Zhang, H, van As, N, Eeles, R, Abeshouse, A, Agrawal, N, Akbani, R, Al-Ahmadie, H, Albert, M, Aldape, K, Ally, A, Appelbaum, E, Armenia, J, Asa, S, Auman, J, Balasundaram, M, Balu, S, Barnholtz-Sloan, J, Bathe, O, Baylin, S, Benz, C, Berchuck, A, Berrios, M, Bigner, D, Birrer, M, Bodenheimer, T, Boice, L, Bootwalla, M, Bosenberg, M, Bowlby, R, Boyd, J, Broaddus, R, Brock, M, Brooks, D, Bullman, S, Caesar-Johnson, S, Carey, T, Carlsen, R, Cerfolio, R, Chandan, V, Chen, H, Cherniack, A, Chien, J, Cho, J, Chuah, E, Cibulskis, C, Cope, L, Cordes, M, Curley, E, Czerniak, B, Danilova, L, Davis, I, Defreitas, T, Demchok, J, Dhalla, N, Dhir, R, Doddapaneni, H, El-Naggar, A, Felau, I, Ferguson, M, Finocchiaro, G, Fong, K, Frazer, S, Friedman, W, Fronick, C, Fulton, L, Gabriel, S, Gao, J, Gehlenborg, N, Gershenwald, J, Ghossein, R, Giama, N, Gibbs, R, Gomez, C, Govindan, R, Hayes, D, Hegde, A, Heiman, D, Heins, Z, Hepperla, A, Holbrook, A, Holt, R, Hoyle, A, Hruban, R, Hu, J, Huntsman, D, Huse, J, Iacobuzio-Donahue, C, Ittmann, M, Jayaseelan, J, Jefferys, S, Jones, C, Jones, S, Juhl, H, Kang, K, Karlan, B, Kasaian, K, Kebebew, E, Korchina, V, Kundra, R, Lai, P, Lander, E, Le, X, Levine, D, Lewis, L, Ley, T, Li, H, Lin, P, Linehan, W, Lype, L, Ma, Y, Maglinte, D, Mardis, E, Marks, J, Marra, M, Matthew, T, Mayo, M, Mccune, K, Meier, S, Meng, S, Mieczkowski, P, Mikkelsen, T, Miller, C, Mills, G, Moore, R, Morrison, C, Mose, L, Moser, C, Mungall, A, Mungall, K, Mutch, D, Muzny, D, Myers, J, Newton, Y, Noble, M, O'Donnell, P, O'Neill, B, Ochoa, A, Parker, J, Pass, H, Pastore, A, Pennell, N, Perou, C, Petrelli, N, Potapova, O, Rader, J, Ramalingam, S, Rathmell, W, Reuter, V, Reynolds, S, Ringel, M, Roach, J, Roberts, L, Sadeghi, S, Saller, C, Sanchez-Vega, F, Schadendorf, D, Schein, J, Schmidt, H, Schultz, N, Seethala, R, Senbabaoglu, Y, Shelton, T, Shi, Y, Shih, J, Shmulevich, I, Shriver, C, Signoretti, S, Simons, J, Singer, S, Sipahimalani, P, Skelly, T, Smith-McCune, K, Socci, N, Soloway, M, Sood, A, Tam, A, Tan, D, Tarnuzzer, R, Thiessen, N, Thompson, R, Thorne, L, Tsao, M, Umbricht, C, Van Den Berg, D, Van Meir, E, Veluvolu, U, Voet, D, Wang, L, Weinberger, P, Weisenberger, D, Wigle, D, Wilkerson, M, Wilson, R, Winterhoff, B, Wiznerowicz, M, Wong, T, Wong, W, Xi, L, Yau, C, Consortium, ICGC/TCGA Pan-Cancer Analysis of Whole Genomes, Demeulemeester, Jonas, Desmedt, Christine, Van Loo, Peter, Barcelona Supercomputing Center, Imperial College Healthcare NHS Trust- BRC Funding, Cancer Research UK, Basic (bio-) Medical Sciences, and Laboratory for Medical and Molecular Oncology
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Male ,tert promoter mutations ,Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2] ,DNA Mutational Analysis ,Normal tissue ,systematic analysis ,Germline ,Transcriptome ,0302 clinical medicine ,Aetiology ,Càncer ,Cellular Senescence ,Cancer ,0303 health sciences ,dna-damage ,Massive parallel sequencing ,Pan cancer ,REARRANGEMENTS ,High-Throughput Nucleotide Sequencing ,Genomics ,Sciences bio-médicales et agricoles ,Telomere ,COMPREHENSIVE ,3. Good health ,TERT PROMOTER MUTATIONS ,signatures ,030220 oncology & carcinogenesis ,Science & Technology - Other Topics ,Erfðarannsóknir ,Human ,Informàtica::Aplicacions de la informàtica::Bioinformàtica [Àrees temàtiques de la UPC] ,Evolution ,RNA Splicing ,Article ,Evolution, Molecular ,Structural variation ,RC0254 ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,Genetic ,genomics ,SYSTEMATIC ANALYSIS ,Genetics ,Genomics--Databases ,Humans ,Genetic Testing ,Molecular Biology ,SIGNATURES ,Whole genome sequencing ,1000 Multidisciplinary ,Chromothripsis ,Science & Technology ,RC0254 Neoplasms. Tumors. Oncology (including Cancer) ,Information Dissemination ,ResearchInstitutes_Networks_Beacons/mcrc ,Prevention ,Biology and Life Sciences ,Molecular ,Oncogenes ,Cloud Computing ,medicine.disease ,Genòmica ,Compute clouds ,Mutation ,570 Life sciences ,biology ,COMPREHENSIVE CHARACTERIZATION ,Genètica ,Whole Genome Sequencing--methods ,Background information ,Genetic / genetics ,Genome ,Germ-Line Mutation / genetics ,Human / genetics ,ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium ,Medizin ,Whole-genome ,Genome mapping ,Neoplasms ,2.1 Biological and endogenous factors ,Promoter Regions, Genetic ,Càncer -- Aspectes genètics ,Telomerase ,Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17] ,Multidisciplinary ,Manchester Cancer Research Centre ,genomics, cancer, profiling ,3rd-DAS ,10124 Institute of Molecular Life Sciences ,Women's cancers Radboud Institute for Health Sciences [Radboudumc 17] ,Multidisciplinary Sciences ,Parallel sequencing ,Female ,profiling ,Medical Genetics ,Engineering sciences. Technology ,Biotechnology ,General Science & Technology ,The Cancer Genome Atlas ,610 Medicine & health ,Computational biology ,QH426 Genetics ,Biology ,Consortium of the International Cancer Genome Consortium ,Promoter Regions ,Germline mutation ,Pan-cancer analysis ,Krabbameinsrannsóknir ,medicine ,cancer ,ddc:610 ,QH426 ,Germ-Line Mutation ,Medicinsk genetik ,Krabbamein ,030304 developmental biology ,Cell Proliferation ,LANDSCAPE ,Genome, Human ,comprehensive characterization ,Pan-cancer analysis of whole genomes ,Point mutation ,Human Genome ,Reproducibility of Results ,SOMATIC MUTATIONS ,EVOLUTION ,Cancer, sequencing, Chromothripsis, telomere ,DNA-DAMAGE ,Mutagenesis ,PATTERNS ,3111 Biomedicine ,CHARACTERIZATION - Abstract
Publisher's version (útgefin grein), Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1,2,3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10,11,12,13,14,15,16,17,18., Competing interests Gad Getz receives research funds from IBM and Pharmacyclics and is an inventor on patent applications related to MuTect, ABSOLUTE, MutSig, MSMuTect, MSMutSig and POLYSOLVER. Hikmat Al-Ahmadie is consultant for AstraZeneca and Bristol-Myers Squibb. Samuel Aparicio is a founder and shareholder of Contextual Genomics. Pratiti Bandopadhayay receives grant funding from Novartis for an unrelated project. Rameen Beroukhim owns equity in Ampressa Therapeutics. Andrew Biankin receives grant funding from Celgene, AstraZeneca and is a consultant for or on advisory boards of AstraZeneca, Celgene, Elstar Therapeutics, Clovis Oncology and Roche. Ewan Birney is a consultant for Oxford Nanopore, Dovetail and GSK. Marcus Bosenberg is a consultant for Eli Lilly. Atul Butte is a cofounder of and consultant for Personalis, NuMedii, a consultant for Samsung, Geisinger Health, Mango Tree Corporation, Regenstrief Institute and in the recent past a consultant for 10x Genomics and Helix, a shareholder in Personalis, a minor shareholder in Apple, Twitter, Facebook, Google, Microsoft, Sarepta, 10x Genomics, Amazon, Biogen, CVS, Illumina, Snap and Sutro and has received honoraria and travel reimbursement for invited talks from Genentech, Roche, Pfizer, Optum, AbbVie and many academic institutions and health systems. Carlos Caldas has served on the Scientific Advisory Board of Illumina. Lorraine Chantrill acted on an advisory board for AMGEN Australia in the past 2 years. Andrew D. Cherniack receives research funding from Bayer. Helen Davies is an inventor on a number of patent applications that encompass the use of mutational signatures. Francisco De La Vega was employed at Annai Systems during part of the project. Ronny Drapkin serves on the scientific advisory board of Repare Therapeutics and Siamab Therapeutics. Rosalind Eeles has received an honorarium for the GU-ASCO meeting in San Francisco in January 2016 as a speaker, a honorarium and support from Janssen for the RMH FR meeting in November 2017 as a speaker (title: genetics and prostate cancer), a honorarium for an University of Chicago invited talk in May 2018 as speaker and an educational honorarium paid by Bayer & Ipsen to attend GU Connect ‘Treatment sequencing for mCRPC patients within the changing landscape of mHSPC’ at a venue at ESMO, Barcelona, on 28 September 2019. Paul Flicek is a member of the scientific advisory boards of Fabric Genomics and Eagle Genomics. Ronald Ghossein is a consultant for Veracyte. Dominik Glodzik is an inventor on a number of patent applications that encompass the use of mutational signatures. Eoghan Harrington is a full-time employee of Oxford Nanopore Technologies and is a stock holder. Yann Joly is responsible for the Data Access Compliance Office (DACO) of ICGC 2009-2018. Sissel Juul is a full-time employee of Oxford Nanopore Technologies and is a stock holder. Vincent Khoo has received personal fees and non-financial support from Accuray, Astellas, Bayer, Boston Scientific and Janssen. Stian Knappskog is a coprincipal investigator on a clinical trial that receives research funding from AstraZeneca and Pfizer. Ignaty Leshchiner is a consultant for PACT Pharma. Carlos López-Otín has ownership interest (including stock and patents) in DREAMgenics. Matthew Meyerson is a scientific advisory board chair of, and consultant for, OrigiMed, has obtained research funding from Bayer and Ono Pharma and receives patent royalties from LabCorp. Serena Nik-Zainal is an inventor on a number of patent applications that encompass the use of mutational signatures. Nathan Pennell has done consulting work with Merck, Astrazeneca, Eli Lilly and Bristol-Myers Squibb. Xose S. Puente has ownership interest (including stock and patents in DREAMgenics. Benjamin J. Raphael is a consultant for and has ownership interest (including stock and patents) in Medley Genomics. Jorge Reis-Filho is a consultant for Goldman Sachs and REPARE Therapeutics, member of the scientific advisory board of Volition RX and Paige.AI and an ad hoc member of the scientific advisory board of Ventana Medical Systems, Roche Tissue Diagnostics, InVicro, Roche, Genentech and Novartis. Lewis R. Roberts has received grant support from ARIAD Pharmaceuticals, Bayer, BTG International, Exact Sciences, Gilead Sciences, Glycotest, RedHill Biopharma, Target PharmaSolutions and Wako Diagnostics and has provided advisory services to Bayer, Exact Sciences, Gilead Sciences, GRAIL, QED Therapeutics and TAVEC Pharmaceuticals. Richard A. Scolyer has received fees for professional services from Merck Sharp & Dohme, GlaxoSmithKline Australia, Bristol-Myers Squibb, Dermpedia, Novartis Pharmaceuticals Australia, Myriad, NeraCare GmbH and Amgen. Tal Shmaya is employed at Annai Systems. Reiner Siebert has received speaker honoraria from Roche and AstraZeneca. Sabina Signoretti is a consultant for Bristol-Myers Squibb, AstraZeneca, Merck, AACR and NCI and has received funding from Bristol-Myers Squibb, AstraZeneca, Exelixis and royalties from Biogenex. Jared Simpson has received research funding and travel support from Oxford Nanopore Technologies. Anil K. Sood is a consultant for Merck and Kiyatec, has received research funding from M-Trap and is a shareholder in BioPath. Simon Tavaré is on the scientific advisory board of Ipsen and a consultant for Kallyope. John F. Thompson has received honoraria and travel support for attending advisory board meetings of GlaxoSmithKline and Provectus and has received honoraria for participation in advisory boards for MSD Australia and BMS Australia. Daniel Turner is a full-time employee of Oxford Nanopore Technologies and is a stock holder. Naveen Vasudev has received speaker honoraria and/or consultancy fees from Bristol-Myers Squibb, Pfizer, EUSA pharma, MSD and Novartis. Jeremiah A. Wala is a consultant for Nference. Daniel J. Weisenberger is a consultant for Zymo Research. Dai-Ying Wu is employed at Annai Systems. Cheng-Zhong Zhang is a cofounder and equity holder of Pillar Biosciences, a for-profit company that specializes in the development of targeted sequencing assays. The other authors declare no competing interests.
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- 2020
9. Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
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Bailey, Matthew H, Meyerson, William U, Dursi, Lewis Jonathan, Wang, Liang-Bo, Dong, Guanlan, Liang, Wen-Wei, Weerasinghe, Amila, Shantao, Li, Kelso, Sean, Saksena, Gordon, Ellrott, Kyle, Wendl, Michael C, Wheeler, David A, Getz, Gad, Simpson, Jared T, Gerstein, Mark B, Ding, Lirehan, Akbani, Pavana, Anur, Matthew, H Bailey, Alex, Buchanan, Kami, Chiotti, Kyle, Covington, Allison, Creason, Ding, Li, Kyle, Ellrott, Fan, Yu, Steven, Foltz, Gad, Getz, Walker, Hale, David, Haussler, Julian, M Hess, Carolyn, M Hutter, Cyriac, Kandoth, Katayoon, Kasaian, Melpomeni, Kasapi, Dave, Larson, Ignaty, Leshchiner, John, Letaw, Singer, Ma, Michael, D McLellan, Yifei, Men, Gordon, B Mills, Beifang, Niu, Myron, Peto, Amie, Radenbaugh, Sheila, M Reynolds, Gordon, Saksena, Heidi, Sofia, Chip, Stewart, Adam, J Struck, Joshua, M Stuart, Wenyi, Wang, John, N Weinstein, David, A Wheeler, Christopher, K Wong, Liu, Xi, Kai, Ye, Matthias, Bieg, Paul, C Boutros, Ivo, Buchhalter, Adam, P Butler, Ken, Chen, 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[0000-0003-4526-9727], Dursi, Lewis Jonathan [0000-0002-4697-798X], Wang, Liang-Bo [0000-0001-6977-9348], Dong, Guanlan [0000-0002-4747-6036], Weerasinghe, Amila [0000-0003-3568-5823], Li, Shantao [0000-0002-5440-2780], Saksena, Gordon [0000-0001-6630-7935], Ellrott, Kyle [0000-0002-6573-5900], Wheeler, David A. [0000-0002-9056-6299], Getz, Gad [0000-0002-0936-0753], Gerstein, Mark B. [0000-0002-9746-3719], Apollo - University of Cambridge Repository, CCA - Cancer biology and immunology, Graduate School, Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, CCA -Cancer Center Amsterdam, Bailey, M, Meyerson, W, Dursi, L, Wang, L, Dong, G, Liang, W, Weerasinghe, A, Li, S, Kelso, S, Akbani, R, Anur, P, Buchanan, A, Chiotti, K, Covington, K, Creason, A, Ding, L, Ellrott, K, Fan, Y, Foltz, S, Getz, G, Hale, W, Haussler, D, Hess, J, Hutter, C, Kandoth, C, Kasaian, K, Kasapi, M, Larson, D, Leshchiner, I, Letaw, J, Ma, S, Mclellan, M, Men, Y, Mills, G, Niu, B, Peto, M, Radenbaugh, A, Reynolds, S, Saksena, G, Sofia, H, Stewart, C, Struck, A, Stuart, J, Wang, W, Weinstein, J, Wheeler, D, Wong, C, Xi, L, Ye, K, Bieg, M, Boutros, P, Buchhalter, I, Butler, A, Chen, K, Chong, Z, Drechsel, O, Jonathan Dursi, L, Eils, R, Espiritu, S, Fulton, R, Gao, S, Gelpi, J, Gerstein, M, Gonzalez, S, Gut, I, Hach, F, Heinold, M, Hinton, J, Hu, T, Huang, V, Huang, Y, Hutter, B, Jones, D, Jung, J, Jager, N, Kim, H, Kleinheinz, K, Kumar, S, Kumar, Y, Lalansingh, C, Letunic, I, Livitz, D, Ma, E, Maruvka, Y, Mashl, R, Menzies, A, Milovanovic, A, Nielsen, M, Ossowski, S, Paramasivam, N, Pedersen, J, Perry, M, Puiggros, M, Raine, K, Rheinbay, E, Royo, R, Sahinalp, S, Sarrafi, I, Schlesner, M, Simpson, J, Stebbings, L, Stobbe, M, Teague, J, Tiao, G, Torrents, D, Wala, J, Wang, J, Waszak, S, Weischenfeldt, J, Wendl, M, Werner, J, Wu, Z, Xue, H, Yakneen, S, Yamaguchi, T, Yellapantula, V, Yung, C, Zhang, J, Aaltonen, L, Abascal, F, Abeshouse, A, Aburatani, H, Adams, D, Agrawal, N, Ahn, K, Ahn, S, Aikata, H, Akdemir, K, Al-Ahmadie, H, Al-Sedairy, S, Al-Shahrour, F, Alawi, M, Albert, M, Aldape, K, Alexandrov, L, Ally, A, Alsop, K, Alvarez, E, Amary, F, Amin, S, Aminou, B, Ammerpohl, O, Anderson, M, Ang, Y, Antonello, D, Aparicio, S, Appelbaum, E, Arai, Y, Aretz, A, Arihiro, K, Ariizumi, S, Armenia, J, Arnould, L, Asa, S, Assenov, Y, Atwal, G, Aukema, S, Auman, J, Aure, M, Awadalla, P, Aymerich, M, Bader, G, Baez-Ortega, A, Bailey, P, Balasundaram, M, Balu, S, Bandopadhayay, P, Banks, R, Barbi, S, Barbour, A, Barenboim, J, Barnholtz-Sloan, J, Barr, H, Barrera, E, Bartlett, J, Bartolome, J, Bassi, C, Bathe, O, Baumhoer, D, Bavi, P, Baylin, S, Bazant, W, Beardsmore, D, Beck, T, Behjati, S, Behren, A, Bell, C, Beltran, S, Benz, C, Berchuck, A, Bergmann, A, Bergstrom, E, Berman, B, Berney, D, Bernhart, S, Beroukhim, R, Berrios, M, Bersani, S, Bertl, J, Betancourt, M, Bhandari, V, Bhosle, S, Biankin, A, Bigner, D, Binder, H, Birney, E, Birrer, M, Biswas, N, Bjerkehagen, B, Bodenheimer, T, Boice, L, Bonizzato, G, De Bono, J, Boot, A, Bootwalla, M, Borg, A, Borkhardt, A, Boroevich, K, Borozan, I, Borst, C, Bosenberg, M, Bosio, M, Boultwood, J, Bourque, G, Bova, G, Bowen, D, Bowlby, R, Bowtell, D, Boyault, S, Boyce, R, Boyd, J, Brazma, A, Brennan, P, Brewer, D, Brinkman, A, Bristow, R, Broaddus, R, Brock, J, Brock, M, Broeks, A, Brooks, A, Brooks, D, Brors, B, Brunak, S, Bruxner, T, Bruzos, A, Buchholz, C, Bullman, S, Burke, H, Burkhardt, B, Burns, K, Busanovich, J, Bustamante, C, Butte, A, Byrne, N, Borresen-Dale, A, Caesar-Johnson, S, Cafferkey, A, Cahill, D, Calabrese, C, Caldas, C, Calvo, F, Camacho, N, Campbell, P, Campo, E, Cantu, C, Cao, S, Carey, T, Carlevaro-Fita, J, Carlsen, R, Cataldo, I, Cazzola, M, Cebon, J, Cerfolio, R, Chadwick, D, Chakravarty, D, Chalmers, D, Chan, C, Chan, K, Chan-Seng-Yue, M, Chandan, V, Chang, D, Chanock, S, Chantrill, L, Chateigner, A, Chatterjee, N, Chayama, K, Chen, H, Chen, J, Chen, Y, Chen, Z, Cherniack, A, Chien, J, Chiew, Y, Chin, S, Cho, J, Cho, S, Choi, J, Choi, W, Chomienne, C, Choo, S, Chou, A, Christ, A, Christie, E, Chuah, E, Cibulskis, C, Cibulskis, K, Cingarlini, S, Clapham, P, Claviez, A, Cleary, S, Cloonan, N, Cmero, M, Collins, C, Connor, A, Cooke, S, Cooper, C, Cope, L, Corbo, V, Cordes, M, Cordner, S, Cortes-Ciriano, I, Cowin, P, Craft, B, Craft, D, 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K, Marchegiani, G, Mardis, E, Margolin, A, Marin, M, Markowetz, F, Markowski, J, Marks, J, Marques-Bonet, T, Marra, M, Marsden, L, Martens, J, Martin, S, Martin-Subero, J, Martincorena, I, Martinez-Fundichely, A, Massie, C, Matthew, T, Matthews, L, Mayer, E, Mayes, S, Mayo, M, Mbabaali, F, Mccune, K, Mcdermott, U, Mcgillivray, P, Mcpherson, J, Mcpherson, T, Meier, S, Meng, A, Meng, S, Merrett, N, Merson, S, Meyerson, M, Mieczkowski, P, Mihaiescu, G, Mijalkovic, S, Mijalkovic-Lazic, A, Mikkelsen, T, Milella, M, Mileshkin, L, Miller, C, Miller, D, Miller, J, Minner, S, Miotto, M, Arnau, G, Mirabello, L, Mitchell, C, Mitchell, T, Miyano, S, Miyoshi, N, Mizuno, S, Molnar-Gabor, F, Moore, M, Moore, R, Morganella, S, Morris, Q, Morrison, C, Mose, L, Moser, C, Muinos, F, Mularoni, L, Mungall, A, Mungall, K, Musgrove, E, Mustonen, V, Mutch, D, Muyas, F, Muzny, D, Munoz, A, Myers, J, Myklebost, O, Moller, P, Nagae, G, Nagrial, A, Nahal-Bose, H, Nakagama, H, Nakagawa, H, Nakamura, H, Nakamura, T, Nakano, K, Nandi, T, Nangalia, J, Nastic, M, Navarro, A, Navarro, F, Neal, D, Nettekoven, G, Newell, F, Newhouse, S, Newton, Y, Ng, A, Nicholson, J, Nicol, D, Nie, Y, Nielsen, G, Nik-Zainal, S, Noble, M, Nones, K, Northcott, P, Notta, F, O'Connor, B, O'Donnell, P, O'Donovan, M, O'Meara, S, O'Neill, B, O'Neill, J, Ocana, D, Ochoa, A, Oesper, L, Ogden, C, Ohdan, H, Ohi, K, Ohno-Machado, L, Oien, K, Ojesina, A, Ojima, H, Okusaka, T, Omberg, L, Ong, C, Ott, G, Ouellette, B, P'Ng, C, Paczkowska, M, Paiella, S, Pairojkul, C, Pajic, M, Pan-Hammarstrom, Q, Papaemmanuil, E, Papatheodorou, I, Park, J, Park, K, Park, P, Parker, J, Parsons, S, Pass, H, Pasternack, D, Pastore, A, Patch, A, Pauporte, I, Pea, A, Pearson, J, Pedamallu, C, Pederzoli, P, Peifer, M, Pennell, N, Perou, C, Petersen, G, Petrelli, N, Petryszak, R, Pfister, S, Phillips, M, Pich, O, Pickett, H, Pihl, T, Pillay, N, Pinder, S, Pinese, M, Pinho, A, Pitkanen, E, Pivot, X, Pineiro-Yanez, E, Planko, L, Plass, C, Polak, P, Pons, 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Yamamoto, S, Yamaue, H, Yang, F, Yang, H, Yang, J, Yang, L, Yang, S, Yang, T, Yang, Y, Yao, X, Yaspo, M, Yates, L, Yau, C, Ye, C, Yoon, C, Yoon, S, Yousif, F, Yu, J, Yu, K, Yu, W, Yu, Y, Yuan, K, Yuan, Y, Yuen, D, Zaikova, O, Zamora, J, Zapatka, M, Zenklusen, J, Zenz, T, Zeps, N, Zhang, C, Zhang, F, Zhang, H, Zhang, X, Zhang, Y, Zhang, Z, Zhao, Z, Zheng, L, Zheng, X, Zhou, W, Zhou, Y, Bin, Z, Zhu, H, Zhu, J, Zhu, S, Zou, L, Zou, X, Defazio, A, van As, N, van Deurzen, C, van de Vijver, M, van't Veer, L, von Mering, C, Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland, Tampere University, BioMediTech, TAYS Cancer Centre, University of St Andrews. Sir James Mackenzie Institute for Early Diagnosis, University of St Andrews. Cellular Medicine Division, University of St Andrews. Statistics, University of St Andrews. School of Medicine, University of Zurich, Gerstein, Mark B, Ding, Li, Bailey, Matthew H [0000-0003-4526-9727], Wheeler, David A [0000-0002-9056-6299], Gerstein, Mark B [0000-0002-9746-3719], Faculty of Economic and Social Sciences and Solvay Business School, Lauri Antti Aaltonen / Principal Investigator, Genome-Scale Biology (GSB) Research Program, Department of Medical and Clinical Genetics, Organismal and Evolutionary Biology Research Programme, Helsinki Institute for Information Technology, Institute of Biotechnology, Bioinformatics, Department of Computer Science, Faculty of Medicine, and HUS Helsinki and Uusimaa Hospital District
- Subjects
VARIANTS ,0302 clinical medicine ,706/648/697/129/2043 ,Databases, Genetic ,Cancer genomics ,SOMATIC POINT MUTATIONS ,Càncer ,lcsh:Science ,Exome ,Exome sequencing ,Cancer ,Base Composition ,Neoplasms -- genetics ,1184 Genetics, developmental biology, physiology ,3100 General Physics and Astronomy ,3. Good health ,030220 oncology & carcinogenesis ,Science & Technology - Other Topics ,Transformació genètica ,Genetic databases ,Erfðarannsóknir ,Human ,GENES ,Science ,1600 General Chemistry ,General Biochemistry, Genetics and Molecular Biology ,RC0254 ,03 medical and health sciences ,Genetic ,SDG 3 - Good Health and Well-being ,1300 General Biochemistry, Genetics and Molecular Biology ,Exome Sequencing ,Genetics ,Humans ,Author Correction ,Retrospective Studies ,Whole genome sequencing ,Comparative genomics ,Science & Technology ,RC0254 Neoplasms. Tumors. Oncology (including Cancer) ,INSERTIONS ,DNA ,PERFORMANCE ,Human genetics ,Communication and replication ,Cancérologie ,692/4028/67/69 ,Genòmica ,030104 developmental biology ,Mutation ,Genome mutation ,Human genome ,lcsh:Q ,COMPREHENSIVE CHARACTERIZATION ,Genètica ,0301 basic medicine ,Medizin ,General Physics and Astronomy ,Genome ,Whole Exome Sequencing ,Genetic transformation ,International Cancer Genome Consortium ,Neoplasms ,631/114/2399 ,Genamengi ,Medicine and Health Sciences ,Medicine(all) ,Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17] ,Multidisciplinary ,318 Medical biotechnology ,Exome -- genetics ,article ,Exons ,Women's cancers Radboud Institute for Health Sciences [Radboudumc 17] ,Multidisciplinary Sciences ,CAPTURE ,1181 Ecology, evolutionary biology ,oncology ,DNA, Intergenic ,139 ,Medical Genetics ,Biotechnology ,ICGC/TCGA Pan-Cancer Analysis ,3122 Cancers ,610 Medicine & health ,45/23 ,QH426 Genetics ,Biology ,MC3 Working Group ,Databases ,Germline mutation ,PCAWG novel somatic mutation calling methods working group ,Krabbameinsrannsóknir ,Cancer Genome Atlas ,Genome, Human -- genetics ,ddc:610 ,QH426 ,Medicinsk genetik ,Krabbamein ,Intergenic ,Whole Genome Sequencing ,Genome, Human ,Human Genome ,PCAWG Consortium ,DAS ,General Chemistry ,DELETIONS ,Good Health and Well Being ,10032 Clinic for Oncology and Hematology ,3111 Biomedicine ,631/1647/2217/748 - Abstract
MC3 Working Group: Rehan Akbani21, Pavana Anur22, Matthew H. Bailey1,2,3, Alex Buchanan9, Kami Chiotti9, Kyle Covington12,23, Allison Creason9, Li Ding1,2,3,20, Kyle Ellrott9, Yu Fan21, Steven Foltz1,2, Gad Getz8,14,15,16, Walker Hale12, David Haussler24,25, Julian M. Hess8,26, Carolyn M. Hutter27, Cyriac Kandoth28, Katayoon Kasaian29,30, Melpomeni Kasapi27, Dave Larson1 , Ignaty Leshchiner8, John Letaw31, Singer Ma32, Michael D. McLellan1,3,20, Yifei Men32, Gordon B. Mills33,34, Beifang Niu35, Myron Peto22, Amie Radenbaugh24, Sheila M. Reynolds36, Gordon Saksena8, Heidi Sofia27, Chip Stewart8, Adam J. Struck31, Joshua M. Stuart24,37, Wenyi Wang21, John N. Weinstein38, David A. Wheeler12,13, Christopher K. Wong24,39, Liu Xi12 & Kai Ye40,41 21Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA. 22Molecular and Medical Genetics, OHSU Knight Cancer Institute, Oregon Health and Science University, Portland, OR 97239, USA. 23Castle Biosciences Inc, Friendswood, TX 77546, USA. 24UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA 95064, USA. 25Howard Hughes Medical Institute, University of California Santa Cruz, Santa Cruz, CA 95064, USA. 26Massachusetts General Hospital Center for Cancer Research, Charlestown, MA 02114, USA. 27National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20894, USA. 28Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA. 29Ontario Institute for Cancer Research, Toronto, ON M5G 0A3, Canada. 30Canada’s Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC V5Z 4S6, Canada. 31Computational Biology Program, School of Medicine, Oregon Health and Science University, Portland, OR 97239, USA. 32DNAnexus Inc, Mountain View, CA 94040, USA. 33Department of Systems Biology, UT MD Anderson Cancer Center, Houston, TX 77030, USA. 34Precision Oncology, OHSU Knight Cancer Institute, Oregon Health and Science University, Portland, OR 97239, USA. 35Computer Network Information Center, Chinese Academy of Sciences, Beijing, China. 36Institute for Systems Biology, Seattle, WA 98109, USA. 37Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA 95064, USA. 38Department of Bioinformatics and Computational Biology and Department of Systems Biology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA. 39Biomolecular Engineering Department, University of California Santa Cruz, Santa Cruz, CA 95064, USA. 40School of Elect, PCAWG novel somatic mutation calling methods working group: Matthew H. Bailey1,2,3, Beifang Niu35, Matthias Bieg42,43, Paul C. Boutros6,44,45,46, Ivo Buchhalter43,47,48, Adam P. Butler49, Ken Chen50, Zechen Chong51, Li Ding1,2,3,20, Oliver Drechsel52,53, Lewis Jonathan Dursi6,7, Roland Eils47,48,54,55, Kyle Ellrott9, Shadrielle M. G. Espiritu6, Yu Fan21, Robert S. Fulton1,3,20, Shengjie Gao56, Josep L. l. Gelpi57,58, Mark B. Gerstein5,18,19, Gad Getz8,14,15,16, Santiago Gonzalez59,60, Ivo G. Gut52,61, Faraz Hach62,63, Michael C. Heinold47,48, Julian M. Hess8,26, Jonathan Hinton49, Taobo Hu64, Vincent Huang6, Yi Huang65,66, Barbara Hutter43,67,68, David R. Jones49, Jongsun Jung69, Natalie Jäger47, Hyung-Lae Kim70, Kortine Kleinheinz47,48, Sushant Kumar5,19, Yogesh Kumar64, Christopher M. Lalansingh6, Ignaty Leshchiner8, Ivica Letunic71, Dimitri Livitz8, Eric Z. Ma64, Yosef E. Maruvka8,26,72, R. Jay Mashl1,2, Michael D. McLellan1,3,20, Andrew Menzies49, Ana Milovanovic57, Morten Muhlig Nielsen73, Stephan Ossowski52,53,74, Nagarajan Paramasivam43,47, Jakob Skou Pedersen73,75, Marc D. Perry76,77, Montserrat Puiggròs57, Keiran M. Raine49, Esther Rheinbay8,14,72, Romina Royo57, S. Cenk Sahinalp62,78,79, Gordon Saksena8, Iman Sarrafi62,78, Matthias Schlesner47,80, Jared T. Simpson6,17, Lucy Stebbings49, Chip Stewart8, Miranda D. Stobbe52,61, Jon W. Teague49, Grace Tiao8, David Torrents57,81, Jeremiah A. Wala8,14,82, Jiayin Wang1,40,66, Wenyi Wang21, Sebastian M. Waszak60, Joachim Weischenfeldt60,83,84, Michael C. Wendl1,10,11, Johannes Werner47,85, Zhenggang Wu64, Hong Xue64, Sergei Yakneen60, Takafumi N. Yamaguchi6, Kai Ye40,41, Venkata D. Yellapantula20,86, Christina K. Yung76 & Junjun Zhang76, PCAWG Consortium: Lauri A. Aaltonen87, Federico Abascal49, Adam Abeshouse88, Hiroyuki Aburatani89, David J. Adams49, Nishant Agrawal90, Keun Soo Ahn91, Sung-Min Ahn92, Hiroshi Aikata93, Rehan Akbani21, Kadir C. Akdemir50, Hikmat Al-Ahmadie88, Sultan T. Al-Sedairy94, Fatima Al-Shahrour95, Malik Alawi96,97, Monique Albert98, Kenneth Aldape99,100, Ludmil B. Alexandrov49,101,102, Adrian Ally30, Kathryn Alsop103, Eva G. Alvarez104,105,106, Fernanda Amary107, Samirkumar B. Amin108,109,110, Brice Aminou76, Ole Ammerpohl111,112, Matthew J. Anderson113, Yeng Ang114, Davide Antonello115, Pavana Anur22, Samuel Aparicio116, Elizabeth L. Appelbaum1,117, Yasuhito Arai118, Axel Aretz119, Koji Arihiro93, Shun-ichi Ariizumi120, Joshua Armenia121, Laurent Arnould122, Sylvia Asa123,124, Yassen Assenov125, Gurnit Atwal6,126,127, Sietse Aukema112,128, J. Todd Auman129, Miriam R. Aure130, Philip Awadalla6,126, Marta Aymerich131, Gary D. Bader126, Adrian Baez-Ortega132, Matthew H. Bailey1,2,3, Peter J. Bailey133, Miruna Balasundaram30, Saianand Balu134, Pratiti Bandopadhayay8,135,136, Rosamonde E. Banks137, Stefano Barbi138, Andrew P. Barbour139,140, Jonathan Barenboim6, Jill Barnholtz-Sloan141,142, Hugh Barr143, Elisabet Barrera59, John Bartlett98,144, Javier Bartolome57, Claudio Bassi115, Oliver F. Bathe145,146, Daniel Baumhoer147, Prashant Bavi148, Stephen B. Baylin149,150, Wojciech Bazant59, Duncan Beardsmore151, Timothy A. Beck152,153, Sam Behjati49, Andreas Behren154, Beifang Niu35, Cindy Bell155, Sergi Beltran52,61, Christopher Benz156, Andrew Berchuck157, Anke K. Bergmann158, Erik N. Bergstrom101,102, Benjamin P. Berman159,160,161, Daniel M. Berney162, Stephan H. Bernhart163,164,165, Rameen Beroukhim8,14,82, Mario Berrios166, Samantha Bersani167, Johanna Bertl73,168, Miguel Betancourt169, Vinayak Bhandari6,44, Shriram G. Bhosle49, Andrew V. Biankin133,170,171,172, Matthias Bieg42,43, Darell Bigner173, Hans Binder163,164, Ewan Birney59, Michael Birrer72, Nidhan K. Biswas174, Bodil Bjerkehagen147,175, Tom Bodenheimer134, Lori Boice176, Giada Bonizzato177, Johann S. De Bono178, Arnoud Boot179,180, Moiz S. Bootwalla166, Ake Borg181, Arndt Borkhardt182, Keith A. Boroevich183,184, Ivan Borozan6, Christoph Borst185, Marcus Bosenberg186, Mattia Bosio52,53,57, Jacqueline Boultwood187, Guillaume Bourque188,189, Paul C. Boutros6,44,45,46, G. Steven Bova190, David T. Bowen49,191, Reanne Bowlby30, David D. L. Bowtell103, Sandrine Boyault192, Rich Boyce59, Jeffrey Boyd193, Alvis Brazma59, Paul Brennan194, Daniel S. Brewer195,196, Arie B. Brinkman197, Robert G. Bristow44,198,199,200,201, Russell R. Broaddus99, Jane E. Brock202, Malcolm Brock203, Annegien Broeks204, Angela N. Brooks8,24,37,82, Denise Brooks30, Benedikt Brors67,205,206, Søren Brunak207,208, Timothy J. C. Bruxner113,209, Alicia L. Bruzos104,105,106, Alex Buchanan9, Ivo Buchhalter43,47,48, Christiane Buchholz210, Susan Bullman8,82, Hazel Burke211, Birgit Burkhardt212, Kathleen H. Burns213,214, John Busanovich8,215, Carlos D. Bustamante216,217, Adam P. Butler49, Atul J. Butte218, Niall J. Byrne76, Anne-Lise Børresen-Dale130,219, Samantha J. Caesar-Johnson220, Andy Cafferkey59, Declan Cahill221, Claudia Calabrese59,60, Carlos Caldas222,223, Fabien Calvo224, Niedzica Camacho178, Peter J. Campbell49,225, Elias Campo226,227, Cinzia Cantù177, Shaolong Cao21, Thomas E. Carey228, Joana Carlevaro-Fita229,230,231, Rebecca Carlsen30, Ivana Cataldo167,177, Mario Cazzola232, Jonathan Cebon154, Robert Cerfolio233, Dianne E. Chadwick234, Dimple Chakravarty235, Don Chalmers236, Calvin Wing Yiu Chan47,237, Kin Chan238, Michelle Chan-Seng-Yue148, Vishal S. Chandan239, David K. Chang133,170, Stephen J. Chanock240, Lorraine A. Chantrill170,241, Aurélien Chateigner76,242, Nilanjan Chatterjee149,243, Kazuaki Chayama93, Hsiao-Wei Chen114,121, Jieming Chen218, Ken Chen50, Yiwen Chen21, Zhaohong Chen244, Andrew D. Cherniack8,82, Jeremy Chien245, Yoke-Eng Chiew246,247, Suet-Feung Chin222,223, Juok Cho8, Sunghoon Cho248, Jung Kyoon Choi249, Wan Choi250, Christine Chomienne251, Zechen Chong51, Su Pin Choo252, Angela Chou170,246, Angelika N. Christ113, Elizabeth L. Christie103, Eric Chuah30, Carrie Cibulskis8, Kristian Cibulskis8, Sara Cingarlini253, Peter Clapham49, Alexander Claviez254, Sean Cleary148,255, Nicole Cloonan256, Marek Cmero257,258,259, Colin C. Collins62, Ashton A. Connor255,260, Susanna L. Cooke133, Colin S. Cooper178,196,261, Leslie Cope149, Vincenzo Corbo138,177, Matthew G. Cordes1,262, Stephen M. Cordner263, Isidro Cortés-Ciriano264,265,266, Kyle Covington12,23, Prue A. Cowin267, Brian Craft24, David Craft8,268, Chad J. Creighton269, Yupeng Cun270, Erin Curley271, Ioana Cutcutache179,180, Karolina Czajka272, Bogdan Czerniak99,273, Rebecca A. Dagg274, Ludmila Danilova149, Maria Vittoria Davi275, Natalie R. Davidson276,277,278,279,280, Helen Davies49,281,282, Ian J. Davis283, Brandi N. Davis-Dusenbery284, Kevin J. Dawson49, Francisco M. De La Vega216,217,285, Ricardo De Paoli-Iseppi211, Timothy Defreitas8, Angelo P. Dei Tos286, Olivier Delaneau287,288,289, John A. Demchok220, Jonas Demeulemeester290,291, German M. Demidov52,53,74, Deniz Demircioğlu292,293, Nening M. Dennis221, Robert E. Denroche148, Stefan C. Dentro49,290,294, Nikita Desai76, Vikram Deshpande72, Amit G. Deshwar295, Christine Desmedt296,297, Jordi Deu-Pons298,299, Noreen Dhalla30, Neesha C. Dhani300, Priyanka Dhingra301,302, Rajiv Dhir303, Anthony DiBiase304, Klev Diamanti305, Li Ding1,2,3,20, Shuai Ding306, Huy Q. Dinh159, Luc Dirix307, HarshaVardhan Doddapaneni12, Nilgun Donmez62,78, Michelle T. Dow244, Ronny Drapkin308, Oliver Drechsel52,53, Ruben M. Drews223, Serge Serge49, Tim Dudderidge150,221, Ana Dueso-Barroso57, Andrew J. Dunford8, Michael Dunn309, Lewis Jonathan Dursi6,7, Fraser R. Duthie133,310, Ken Dutton-Regester311, Jenna Eagles272, Douglas F. Easton312,313, Stuart Edmonds314, Paul A. Edwards223,315, Sandra E. Edwards178, Rosalind A. Eeles178,221, Anna Ehinger316, Juergen Eils54,55, Roland Eils47,48,54,55, Adel El-Naggar99,273, Matthew Eldridge223, Kyle Ellrott9, Serap Erkek60, Georgia Escaramis53,317,318, Shadrielle M. G. Espiritu6, Xavier Estivill53,319, Dariush Etemadmoghadam103, Jorunn E. Eyfjord320, Bishoy M. Faltas280, Daiming Fan321, Yu Fan21, William C. Faquin72, Claudiu Farcas244, Matteo Fassan322, Aquila Fatima323, Francesco Favero324, Nodirjon Fayzullaev76, Ina Felau220, Sian Fereday103, Martin L. Ferguson325, Vincent Ferretti76,326, Lars Feuerbach205, Matthew A. Field327, J. Lynn Fink57,113, Gaetano Finocchiaro328, Cyril Fisher221, Matthew W. Fittall290, Anna Fitzgerald329, Rebecca C. Fitzgerald282, Adrienne M. Flanagan330, Neil E. Fleshner331, Paul Flicek59, John A. Foekens332, Kwun M. Fong333, Nuno A. Fonseca59,334, Christopher S. Foster335,336, Natalie S. Fox6, Michael Fraser6, Scott Frazer8, Milana Frenkel-Morgenstern337, William Friedman338, Joan Frigola298, Catrina C. Fronick1,262, Akihiro Fujimoto184, Masashi Fujita184, Masashi Fukayama339, Lucinda A. Fulton1 , Robert S. Fulton1,3,20, Mayuko Furuta184, P. Andrew Futreal340, Anja Füllgrabe59, Stacey B. Gabriel8, Steven Gallinger148,255,260, Carlo Gambacorti-Passerini341, Jianjiong Gao121, Shengjie Gao56, Levi Garraway82, Øystein Garred342, Erik Garrison49, Dale W. Garsed103, Nils Gehlenborg8,343, Josep L. l. Gelpi57,58, Joshy George110, Daniela S. Gerhard344, Clarissa Gerhauser345, Jeffrey E. Gershenwald346,347, Mark B. Gerstein5,18,19, Moritz Gerstung59,60, Gad Getz8,14,15,16, Mohammed Ghori49, Ronald Ghossein348, Nasra H. Giama349, Richard A. Gibbs12, Anthony J. Gill170,350, Pelvender Gill351, Dilip D. Giri348, Dominik Glodzik49, Vincent J. Gnanapragasam352,353, Maria Elisabeth Goebler354, Mary J. Goldman24, Carmen Gomez355, Santiago Gonzalez59,60, Abel Gonzalez-Perez298,299,356, Dmitry A. Gordenin357, James Gossage358, Kunihito Gotoh359, Ramaswamy Govindan3, Dorthe Grabau360, Janet S. Graham133,361, Robert C. Grant148,260, Anthony R. Green315, Eric Green27, Liliana Greger59, Nicola Grehan282, Sonia Grimaldi177, Sean M. Grimmond362, Robert L. Grossman363, Adam Grundhoff97,364, Gunes Gundem88, Qianyun Guo75, Manaswi Gupta8, Shailja Gupta365, Ivo G. Gut52,61, Marta Gut52,61, Jonathan Göke292,366, Gavin Ha8, Andrea Haake111, David Haan37, Siegfried Haas185, Kerstin Haase290, James E. Haber367, Nina Habermann60, Faraz Hach62,63, Syed Haider6, Natsuko Hama118, Freddie C. Hamdy351, Anne Hamilton267, Mark P. Hamilton368, Leng Han369, George B. Hanna370, Martin Hansmann371, Nicholas J. Haradhvala8,72, Olivier Harismendy102,372, Ivon Harliwong113, Arif O. Harmanci5,373, Eoghan Harrington374, Takanori Hasegawa375, David Haussler24,25, Steve Hawkins223, Shinya Hayami376, Shuto Hayashi375, D. Neil Hayes134,377,378, Stephen J. Hayes379,380, Nicholas K. Hayward211,311, Steven Hazell221, Yao He381, Allison P. Heath382, Simon C. Heath52,61, David Hedley300, Apurva M. Hegde38, David I. Heiman8, Michael C. Heinold47,48, Zachary Heins88, Lawrence E. Heisler152, Eva Hellstrom-Lindberg383, Mohamed Helmy384, Seong Gu Heo385, Austin J. Hepperla134, José María Heredia-Genestar386, Carl Herrmann47,48,387, Peter Hersey211, Julian M. Hess8,26, Holmfridur Hilmarsdottir320, Jonathan Hinton49, Satoshi Hirano388, Nobuyoshi Hiraoka389, Katherine A. Hoadley134,390, Asger Hobolth75,168, Ermin Hodzic78, Jessica I. Hoell182, Steve Hoffmann163,164,165,391, Oliver Hofmann392, Andrea Holbrook166, Aliaksei Z. Holik53, Michael A. Hollingsworth393, Oliver Holmes209,311, Robert A. Holt30, Chen Hong205,237, Eun Pyo Hong385, Jongwhi H. Hong394, Gerrit K. Hooijer395, Henrik Hornshøj73, Fumie Hosoda118, Yong Hou56,396, Volker Hovestadt397, William Howat352, Alan P. Hoyle134, Ralph H. Hruban149, Jianhong Hu12, Taobo Hu64, Xing Hua240, Kuan-lin Huang1,398, Mei Huang176, Mi Ni Huang179,180, Vincent Huang6, Yi Huang65,66, Wolfgang Huber60, Thomas J. Hudson272,399, Michael Hummel400, Jillian A. Hung246,247, David Huntsman401, Ted R. Hupp402, Jason Huse88, Matthew R. Huska403, Barbara Hutter43,67,68, Carolyn M. Hutter27, Daniel Hübschmann48,54,404,405,406, Christine A. Iacobuzio-Donahue348, Charles David Imbusch205, Marcin Imielinski407,408, Seiya Imoto375, William B. Isaacs409, Keren Isaev6,44, Shumpei Ishikawa410, Murat Iskar397, S. M. Ashiqul Islam244, Michael Ittmann411,412,413, Sinisa Ivkovic284, Jose M. G. Izarzugaza414, Jocelyne Jacquemier415, Valerie Jakrot211, Nigel B. Jamieson133,172,416, Gun Ho Jang148, Se Jin Jang417, Joy C. Jayaseelan12, Reyka Jayasinghe1 , Stuart R. Jefferys134, Karine Jegalian418, Jennifer L. Jennings419, Seung-Hyup Jeon250, Lara Jerman60,420, Yuan Ji421,422, Wei Jiao6, Peter A. Johansson311, Amber L. Johns170, Jeremy Johns272, Rory Johnson230,423, Todd A. Johnson183, Clemency Jolly290, Yann Joly424, Jon G. Jonasson320, Corbin D. Jones425, David R. Jones49, David T. W. Jones426,427, Nic Jones428, Steven J. M. Jones30, Jos Jonkers204, Young Seok Ju49,249, Hartmut Juhl429, Jongsun Jung69, Malene Juul73, Randi Istrup Juul73, Sissel Juul374, Natalie Jäger47, Rolf Kabbe47, Andre Kahles276,277,278,279,430, Abdullah Kahraman431,432,433, Vera B. Kaiser434, Hojabr Kakavand211, Sangeetha Kalimuthu148, Christof von Kalle405, Koo Jeong Kang91, Katalin Karaszi351, Beth Karlan435, Rosa Karlić436, Dennis Karsch437, Katayoon Kasaian29,30, Karin S. Kassahn113,438, Hitoshi Katai439, Mamoru Kato440, Hiroto Katoh410, Yoshiiku Kawakami93, Jonathan D. Kay117, Stephen H. Kazakoff209,311, Marat D. Kazanov441,442,443, Maria Keays59, Electron Kebebew444,445, Richard F. Kefford446, Manolis Kellis8,447, James G. Kench170,350,448, Catherine J. Kennedy246,247, Jules N. A. Kerssemakers47, David Khoo273, Vincent Khoo221, Narong Khuntikeo115,449, Ekta Khurana301,302,450,451, Helena Kilpinen117, Hark Kyun Kim452, Hyung-Lae Kim70, Hyung-Yong Kim415, Hyunghwan Kim250, Jaegil Kim8, Jihoon Kim453, Jong K. Kim454, Youngwook Kim455,456, Tari A. King457,458,459, Wolfram Klapper128, Kortine Kleinheinz47,48, Leszek J. Klimczak460, Stian Knappskog49,461, Michael Kneba437, Bartha M. Knoppers424, Youngil Koh462,463, Jan Komorowski305,464, Daisuke Komura410, Mitsuhiro Komura375, Gu Kong415, Marcel Kool426,465, Jan O. Korbel59,60, Viktoriya Korchina12, Andrey Korshunov465, Michael Koscher465, Roelof Koster466, Zsofia Kote-Jarai178, Antonios Koures244, Milena Kovacevic284, Barbara Kremeyer49, Helene Kretzmer164,165, Markus Kreuz467, Savitri Krishnamurthy99,468, Dieter Kube469, Kiran Kumar8, Pardeep Kumar221, Sushant Kumar5,19, Yogesh Kumar64, Ritika Kundra114,121, Kirsten Kübler8,14,72, Ralf Küppers470, Jesper Lagergren383,471, Phillip H. Lai166, Peter W. Laird472, Sunil R. Lakhani473, Christopher M. Lalansingh6, Emilie Lalonde6, Fabien C. Lamaze6, Adam Lambert351, Eric Lander8, Pablo Landgraf474,475, Luca Landoni115, Anita Langerød130, Andrés Lanzós230,231,423, Denis Larsimont476, Erik Larsson477, Mark Lathrop189, Loretta M. S. Lau478, Chris Lawerenz55, Rita T. Lawlor177, Michael S. Lawrence8,72,183, Alexander J. Lazar99,108, Xuan Le479, Darlene Lee30, Donghoon Lee5, Eunjung Alice Lee480, Hee Jin Lee417, Jake June-Koo Lee264,266, Jeong-Yeon Lee481, Juhee Lee482, Ming Ta Michael Lee340, Henry Lee-Six49, Kjong-Van Lehmann276,277,278,279,430, Hans Lehrach483, Dido Lenze400, Conrad R. Leonard209,311, Daniel A. Leongamornlert49,178, Ignaty Leshchiner8, Louis Letourneau484, Ivica Letunic71, Douglas A. Levine88,485, Lora Lewis12, Tim Ley486, Chang Li56,396, Constance H. Li6,44, Haiyan Irene Li30, Jun Li21, Lin Li56, Shantao Li5, Siliang Li56,396, Xiaobo Li56,396, Xiaotong Li5, Xinyue Li56, Yilong Li49, Han Liang21, Sheng-Ben Liang234, Peter Lichter68,397, Pei Lin8, Ziao Lin8,487, W. M. Linehan488, Ole Christian Lingjærde489, Dongbing Liu56,396, Eric Minwei Liu88,301,302, Fei-Fei Liu201,490, Fenglin Liu381,491, Jia Liu492, Xingmin Liu56,396, Julie Livingstone6, Dimitri Livitz8, Naomi Livni221, Lucas Lochovsky5,19,110, Markus Loeffler467, Georgina V. Long211, Armando Lopez-Guillermo493, Shaoke Lou5,19, David N. Louis72, Laurence B. Lovat117, Yiling Lu38, Yong-Jie Lu162,494, Youyong Lu495,496,497, Claudio Luchini167, Ilinca Lungu144,148, Xuemei Luo152, Hayley J. Luxton117, Andy G. Lynch223,315,498, Lisa Lype36, Cristina López111,112, Carlos López-Otín499, Eric Z. Ma64, Yussanne Ma30, Gaetan MacGrogan500, Shona MacRae501, Geoff Macintyre223, Tobias Madsen73, Kazuhiro Maejima184, Andrea Mafficini177, Dennis T. Maglinte166,502, Arindam Maitra174, Partha P. Majumder174, Luca Malcovati232, Salem Malikic62,78, Giuseppe Malleo115, Graham J. Mann211,246,503, Luisa Mantovani-Löffler504, Kathleen Marchal505,506, Giovanni Marchegiani115, Elaine R. Mardis1,193,507, Adam A. Margolin31, Maximillian G. Marin37, Florian Markowetz223,315, Julia Markowski403, Jeffrey Marks508, Tomas Marques-Bonet61,81,386,509, Marco A. Marra30, Luke Marsden351, John W. M. Martens332, Sancha Martin49,510, Jose I. Martin-Subero81,511, Iñigo Martincorena49, Alexander Martinez-Fundichely301,302,451 Yosef E. Maruvka8,26,72, R. Jay Mashl1,2, Charlie E. Massie223, Thomas J. Matthew37, Lucy Matthews178, Erik Mayer221,512, Simon Mayes513, Michael Mayo30, Faridah Mbabaali272, Karen McCune514, Ultan McDermott49, Patrick D. McGillivray19, Michael D. McLellan1,3,20, John D. McPherson148,272,515, John R. McPherson179,180, Treasa A. McPherson260, Samuel R. Meier8, Alice Meng516, Shaowu Meng134, Andrew Menzies49, Neil D. Merrett115,517, Sue Merson178, Matthew Meyerson8,14,82, William U. Meyerson4,5, Piotr A. Mieczkowski518, George L. Mihaiescu76, Sanja Mijalkovic284, Ana Mijalkovic Mijalkovic-Lazic284, Tom Mikkelsen519, Michele Milella253, Linda Mileshkin103, Christopher A. Miller1 , David K. Miller113,170, Jessica K. Miller272, Gordon B. Mills33,34, Ana Milovanovic57, Sarah Minner520, Marco Miotto115, Gisela Mir Arnau267, Lisa Mirabello240, Chris Mitchell103, Thomas J. Mitchell49,315,352, Satoru Miyano375, Naoki Miyoshi375, Shinichi Mizuno521, Fruzsina Molnár-Gábor522, Malcolm J. Moore300, Richard A. Moore30, Sandro Morganella49, Quaid D. Morris127,490, Carl Morrison523,524, Lisle E. Mose134, Catherine D. Moser349, Ferran Muiños298,299, Loris Mularoni298,299, Andrew J. Mungall30, Karen Mungall30, Elizabeth A. Musgrove133, Ville Mustonen525,526,527, David Mutch528, Francesc Muyas52,53,74, Donna M. Muzny12, Alfonso Muñoz59, Jerome Myers529, Ola Myklebost461, Peter Möller530, Genta Nagae89, Adnan M. Nagrial170, Hardeep K. Nahal-Bose76, Hitoshi Nakagama531, Hidewaki Nakagawa184, Hiromi Nakamura118, Toru Nakamura388, Kaoru Nakano184, Tannistha Nandi532, Jyoti Nangalia49, Mia Nastic284, Arcadi Navarro61,81,386, Fabio C. P. Navarro19, David E. Neal223,352, Gerd Nettekoven533, Felicity Newell209,311, Steven J. Newhouse59, Yulia Newton37, Alvin Wei Tian Ng534, Anthony Ng535, Jonathan Nicholson49, David Nicol221, Yongzhan Nie321,536, G. Petur Nielsen72, Morten Muhlig Nielsen73, Serena Nik-Zainal49,281,282,537, Michael S. Noble8, Katia Nones209,311, Paul A. Northcott538, Faiyaz Notta148,539, Brian D. O’Connor76,540, Peter O’Donnell541, Maria O’Donovan282, Sarah O’Meara49, Brian Patrick O’Neill542, J. Robert O’Neill543, David Ocana59, Angelica Ochoa88, Layla Oesper544, Christopher Ogden221, Hideki Ohdan93, Kazuhiro Ohi375, Lucila Ohno-Machado244, Karin A. Oien523,545, Akinyemi I. Ojesina546,547,548, Hidenori Ojima549, Takuji Okusaka550, Larsson Omberg551, Choon Kiat Ong552, Stephan Ossowski52,53,74, German Ott553, B. F. Francis Ouellette76,554, Christine P’ng6, Marta Paczkowska6, Salvatore Paiella115, Chawalit Pairojkul523, Marina Pajic170, Qiang Pan-Hammarström56,555, Elli Papaemmanuil49, Irene Papatheodorou59, Nagarajan Paramasivam43,47, Ji Wan Park385, Joong-Won Park556, Keunchil Park557,558, Kiejung Park559, Peter J. Park264,266, Joel S. Parker518, Simon L. Parsons124, Harvey Pass560, Danielle Pasternack272, Alessandro Pastore276, Ann-Marie Patch209,311, Iris Pauporté251, Antonio Pea115, John V. Pearson209,311, Chandra Sekhar Pedamallu8,14,82, Jakob Skou Pedersen73,75, Paolo Pederzoli115, Martin Peifer270, Nathan A. Pennell561, Charles M. Perou129,518, Marc D. Perry76,77, Gloria M. Petersen562, Myron Peto22, Nicholas Petrelli563, Robert Petryszak59, Stefan M. Pfister426,465,564, Mark Phillips424, Oriol Pich298,299, Hilda A. Pickett478, Todd D. Pihl565, Nischalan Pillay566, Sarah Pinder567, Mark Pinese170, Andreia V. Pinho568, Esa Pitkänen60, Xavier Pivot569, Elena Piñeiro-Yáñez95, Laura Planko533, Christoph Plass345, Paz Polak8,14,15, Tirso Pons570, Irinel Popescu571, Olga Potapova572, Aparna Prasad52, Shaun R. Preston573, Manuel Prinz47, Antonia L. Pritchard311, Stephenie D. Prokopec6, Elena Provenzano574, Xose S. Puente499, Sonia Puig176, Montserrat Puiggròs57, Sergio Pulido-Tamayo505,506, Gulietta M. Pupo246, Colin A. Purdie575, Michael C. Quinn209,311, Raquel Rabionet52,53,576, Janet S. Rader577, Bernhard Radlwimmer397, Petar Radovic284, Benjamin Raeder60, Keiran M. Raine49, Manasa Ramakrishna49, Kamna Ramakrishnan49, Suresh Ramalingam578, Benjamin J. Raphael579, W. Kimryn Rathmell580, Tobias Rausch60, Guido Reifenberger475, Jüri Reimand6,44, Jorge Reis-Filho348, Victor Reuter348, Iker Reyes-Salazar298, Matthew A. Reyna579, Sheila M. Reynolds36, Esther Rheinbay8,14,72, Yasser Riazalhosseini189, Andrea L. Richardson323, Julia Richter111,128, Matthew Ringel581, Markus Ringnér181, Yasushi Rino582, Karsten Rippe405, Jeffrey Roach583, Lewis R. Roberts349, Nicola D. Roberts49, Steven A. Roberts584, A. Gordon Robertson30, Alan J. Robertson113, Javier Bartolomé Rodriguez57, Bernardo Rodriguez-Martin104,105,106, F. Germán Rodríguez-González83,332, Michael H. A. Roehrl44,123,148,234,585,586, Marius Rohde587, Hirofumi Rokutan440, Gilles Romieu588, Ilse Rooman170, Tom Roques262, Daniel Rosebrock8, Mara Rosenberg8,72, Philip C. Rosenstiel589, Andreas Rosenwald590, Edward W. Rowe221,591, Romina Royo57, Steven G. Rozen179,180,592, Yulia Rubanova17,127, Mark A. Rubin423,593,594,595,596, Carlota Rubio-Perez298,299,597, Vasilisa A. Rudneva60, Borislav C. Rusev177, Andrea Ruzzenente598, Gunnar Rätsch276,277,278,279,280,430, Radhakrishnan Sabarinathan298,299,599, Veronica Y. Sabelnykova6, Sara Sadeghi30, S. Cenk Sahinalp62,78,79, Natalie Saini357, Mihoko Saito-Adachi440, Gordon Saksena8, Adriana Salcedo6, Roberto Salgado600, Leonidas Salichos5,19, Richard Sallari8, Charles Saller601, Roberto Salvia115, Michelle Sam272, Jaswinder S. Samra115,602, Francisco Sanchez-Vega114,121, Chris Sander276,603,604, Grant Sanders134, Rajiv Sarin605, Iman Sarrafi62,78, Aya Sasaki-Oku184, Torill Sauer489, Guido Sauter520, Robyn P. M. Saw211, Maria Scardoni167, Christopher J. Scarlett170,606, Aldo Scarpa177, Ghislaine Scelo194, Dirk Schadendorf68,607, Jacqueline E. Schein30, Markus B. Schilhabel589, Matthias Schlesner47,80, Thorsten Schlomm84,608, Heather K. Schmidt1 , Sarah-Jane Schramm246, Stefan Schreiber609, Nikolaus Schultz121, Steven E. Schumacher8,323, Roland F. Schwarz59,403,405,610, Richard A. Scolyer211,448,602, David Scott428, Ralph Scully611, Raja Seethala612, Ayellet V. Segre8,613, Iris Selander260, Colin A. Semple434, Yasin Senbabaoglu276, Subhajit Sengupta614, Elisabetta Sereni115, Stefano Serra585, Dennis C. Sgroi72, Mark Shackleton103, Nimish C. Shah352, Sagedeh Shahabi234, Catherine A. Shang329, Ping Shang211, Ofer Shapira8,323, Troy Shelton271, Ciyue Shen603,604, Hui Shen615, Rebecca Shepherd49, Ruian Shi490, Yan Shi134, Yu-Jia Shiah6, Tatsuhiro Shibata118,616, Juliann Shih8,82, Eigo Shimizu375, Kiyo Shimizu617, Seung Jun Shin618, Yuichi Shiraishi375, Tal Shmaya285, Ilya Shmulevich36, Solomon I. Shorser6, Charles Short59, Raunak Shrestha62, Suyash S. Shringarpure217, Craig Shriver619, Shimin Shuai6,126, Nikos Sidiropoulos83, Reiner Siebert112,620, Anieta M. Sieuwerts332, Lina Sieverling205,237, Sabina Signoretti202,621, Katarzyna O. Sikora177, Michele Simbolo138, Ronald Simon520, Janae V. Simons134, Jared T. Simpson6,17, Peter T. Simpson473, Samuel Singer115,458, Nasa Sinnott-Armstrong8,217, Payal Sipahimalani30, Tara J. Skelly390, Marcel Smid332, Jaclyn Smith622, Karen Smith-McCune514, Nicholas D. Socci276, Heidi J. Sofia27, Matthew G. Soloway134, Lei Song240, Anil K. Sood623,624,625, Sharmila Sothi626, Christos Sotiriou244, Cameron M. Soulette37, Paul N. Span627, Paul T. Spellman22, Nicola Sperandio177, Andrew J. Spillane211, Oliver Spiro8, Jonathan Spring628, Johan Staaf181, Peter F. Stadler163,164,165, Peter Staib629, Stefan G. Stark277,279,618,630, Lucy Stebbings49, Ólafur Andri Stefánsson631, Oliver Stegle59,60,632, Lincoln D. Stein6,126, Alasdair Stenhouse633, Chip Stewart8, Stephan Stilgenbauer634, Miranda D. Stobbe52,61, Michael R. Stratton49, Jonathan R. Stretch211, Adam J. Struck31, Joshua M. Stuart24,37, Henk G. Stunnenberg396,635, Hong Su56,396, Xiaoping Su99, Ren X. Sun6, Stephanie Sungalee60, Hana Susak52,53, Akihiro Suzuki89,636, Fred Sweep637, Monika Szczepanowski128, Holger Sültmann67,638, Takashi Yugawa617, Angela Tam30, David Tamborero298,299, Benita Kiat Tee Tan639, Donghui Tan518, Patrick Tan180,532,592,640, Hiroko Tanaka375, Hirokazu Taniguchi616, Tomas J. Tanskanen641, Maxime Tarabichi49,290, Roy Tarnuzzer220, Patrick Tarpey642, Morgan L. Taschuk152, Kenji Tatsuno89, Simon Tavaré223,643, Darrin F. Taylor113, Amaro Taylor-Weiner8, Jon W. Teague49, Bin Tean Teh180,592,640,644,645, Varsha Tembe246, Javier Temes104,105, Kevin Thai76, Sarah P. Thayer393, Nina Thiessen30, Gilles Thomas646, Sarah Thomas221, Alan Thompson221, Alastair M. Thompson633, John F. Thompson211, R. Houston Thompson647, Heather Thorne103, Leigh B. Thorne176, Adrian Thorogood424, Grace Tiao8, Nebojsa Tijanic284, Lee E. Timms272, Roberto Tirabosco648, Marta Tojo106, Stefania Tommasi649, Christopher W. Toon170, Umut H. Toprak48,650, David Torrents57,81, Giampaolo Tortora651,652, Jörg Tost653, Yasushi Totoki118, David Townend654, Nadia Traficante103, Isabelle Treilleux655,656, Jean-Rémi Trotta61, Lorenz H. P. Trümper469, Ming Tsao124,539, Tatsuhiko Tsunoda183,657,658,659, Jose M. C. Tubio104,105,106, Olga Tucker660, Richard Turkington661, Daniel J. Turner513, Andrew Tutt323, Masaki Ueno376, Naoto T. Ueno662, Christopher Umbricht151,213,663, Husen M. Umer305,664, Timothy J. Underwood665, Lara Urban59,60, Tomoko Urushidate616, Tetsuo Ushiku339, Liis Uusküla-Reimand666,667, Alfonso Valencia57,81, David J. Van Den Berg166, Steven Van Laere307, Peter Van Loo290,291, Erwin G. Van Meir668, Gert G. Van den Eynden307, Theodorus Van der Kwast123, Naveen Vasudev137, Miguel Vazquez57,669, Ravikiran Vedururu267, Umadevi Veluvolu518, Shankar Vembu490,670, Lieven P. C. Verbeke506,671, Peter Vermeulen307, Clare Verrill351,672, Alain Viari177, David Vicente57, Caterina Vicentini177, K. Vijay Raghavan365, Juris Viksna673, Ricardo E. Vilain674, Izar Villasante57, Anne Vincent-Salomon635, Tapio Visakorpi190, Douglas Voet8, Paresh Vyas311,351, Ignacio Vázquez-García49,86,675,676, Nick M. Waddell209, Nicola Waddell209,311, Claes Wadelius677, Lina Wadi6, Rabea Wagener111,112, Jeremiah A. Wala8,14,82, Jian Wang56, Jiayin Wang1,40,66, Linghua Wang12, Qi Wang465, Wenyi Wang21, Yumeng Wang21, Zhining Wang220, Paul M. Waring523, Hans-Jörg Warnatz483, Jonathan Warrell5,19, Anne Y. Warren352,678, Sebastian M. Waszak60, David C. Wedge49,294,679, Dieter Weichenhan345, Paul Weinberger680, John N. Weinstein38, Joachim Weischenfeldt60,83,84, Daniel J. Weisenberger166, Ian Welch681, Michael C. Wendl1,10,11, Johannes Werner47,85, Justin P. Whalley61,682, David A. Wheeler12,13, Hayley C. Whitaker117, Dennis Wigle683, Matthew D. Wilkerson518, Ashley Williams244, James S. Wilmott211, Gavin W. Wilson6,148, Julie M. Wilson148, Richard K. Wilson1,684, Boris Winterhoff685, Jeffrey A. Wintersinger17,127,384, Maciej Wiznerowicz686,687, Stephan Wolf688, Bernice H. Wong689, Tina Wong1,30, Winghing Wong690, Youngchoon Woo250, Scott Wood209,311, Bradly G. Wouters44, Adam J. Wright6, Derek W. Wright133,691, Mark H. Wright217, Chin-Lee Wu72, Dai-Ying Wu285, Guanming Wu692, Jianmin Wu170, Kui Wu56,396, Yang Wu179,180, Zhenggang Wu64, Liu Xi12, Tian Xia693, Qian Xiang76, Xiao Xiao66, Rui Xing497, Heng Xiong56,396, Qinying Xu209,311, Yanxun Xu694, Hong Xue64, Shinichi Yachida118,695, Sergei Yakneen60, Rui Yamaguchi375, Takafumi N. Yamaguchi6, Masakazu Yamamoto120, Shogo Yamamoto89, Hiroki Yamaue376, Fan Yang490, Huanming Yang56, Jean Y. Yang696, Liming Yang220, Lixing Yang697, Shanlin Yang306, Tsun-Po Yang270, Yang Yang369, Xiaotong Yao408,698, Marie-Laure Yaspo483, Lucy Yates49, Christina Yau156, Chen Ye56,396, Kai Ye40,41, Venkata D. Yellapantula20,86, Christopher J. Yoon249, Sung-Soo Yoon463, Fouad Yousif6, Jun Yu699, Kaixian Yu700, Willie Yu701, Yingyan Yu702, Ke Yuan223,510,703, Yuan Yuan21, Denis Yuen6, Takashi Yugawa617, Christina K. Yung76, Olga Zaikova704, Jorge Zamora49,104,105,106, Marc Zapatka397, Jean C. Zenklusen220, Thorsten Zenz67, Nikolajs Zeps705,706, Cheng-Zhong Zhang8,707, Fan Zhang381, Hailei Zhang8, Hongwei Zhang494, Hongxin Zhang121, Jiashan Zhang220, Jing Zhang5, Junjun Zhang76, Xiuqing Zhang56, Xuanping Zhang66,369, Yan Zhang5,708,709, Zemin Zhang381,710, Zhongming Zhao711, Liangtao Zheng381, Xiuqing Zheng381, Wanding Zhou615, Yong Zhou56, Bin Zhu240, Hongtu Zhu700,712, Jingchun Zhu24, Shida Zhu56,396, Lihua Zou713, Xueqing Zou49, Anna deFazio246,247,714, Nicholas van As221, Carolien H. M. van Deurzen715, Marc J. van de Vijver523, L. van’t Veer716 & Christian von Mering433,717, The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts.
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- 2020
10. PhISCS: a combinatorial approach for subperfect tumor phylogeny reconstruction via integrative use of single-cell and bulk sequencing data
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Iman Hajirasouliha, Simone Ciccolella, Farid Rashidi Mehrabadi, Camir Ricketts, Faraz Hach, Salem Malikic, S. Cenk Sahinalp, Ehsan Haghshenas, Daniel N. Seidman, Md. Khaledur Rahman, Malikic, S, Mehrabadi, F, Ciccolella, S, Rahman, M, Ricketts, C, Haghshenas, E, Seidman, D, Hach, F, Hajirasouliha, I, and Sahinalp, S
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0303 health sciences ,Sequence ,Linear programming ,Perfect phylogeny ,Cancer Phylogeny, Single Cell Sequencing ,Probabilistic logic ,Computational Biology ,High-Throughput Nucleotide Sequencing ,Method ,Biology ,03 medical and health sciences ,Tree (data structure) ,0302 clinical medicine ,Single cell sequencing ,Neoplasms ,Genetics ,False positive paradox ,Humans ,Single-Cell Analysis ,Algorithm ,Phylogeny ,030217 neurology & neurosurgery ,Genetics (clinical) ,030304 developmental biology ,Integer (computer science) - Abstract
Available computational methods for tumor phylogeny inference via single-cell sequencing (SCS) data typically aim to identify the most likely perfect phylogeny tree satisfying the infinite sites assumption (ISA). However, the limitations of SCS technologies including frequent allele dropout and variable sequence coverage may prohibit a perfect phylogeny. In addition, ISA violations are commonly observed in tumor phylogenies due to the loss of heterozygosity, deletions, and convergent evolution. In order to address such limitations, we introduce the optimal subperfect phylogeny problem which asks to integrate SCS data with matching bulk sequencing data by minimizing a linear combination of potential false negatives (due to allele dropout or variance in sequence coverage), false positives (due to read errors) among mutation calls, and the number of mutations that violate ISA (real or because of incorrect copy number estimation). We then describe a combinatorial formulation to solve this problem which ensures that several lineage constraints imposed by the use of variant allele frequencies (VAFs, derived from bulk sequence data) are satisfied. We express our formulation both in the form of an integer linear program (ILP) and—as a first in tumor phylogeny reconstruction—a Boolean constraint satisfaction problem (CSP) and solve them by leveraging state-of-the-art ILP/CSP solvers. The resulting method, which we name PhISCS, is the first to integrate SCS and bulk sequencing data while accounting for ISA violating mutations. In contrast to the alternative methods, typically based on probabilistic approaches, PhISCS provides a guarantee of optimality in reported solutions. Using simulated and real data sets, we demonstrate that PhISCS is more general and accurate than all available approaches.
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- 2019
11. Stochastic modelling of single-cell gene expression adaptation reveals non-genomic contribution to evolution of tumor subclones.
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Hirsch MG, Pal S, Mehrabadi FR, Malikic S, Gruen C, Sassano A, Pérez-Guijarro E, Merlino G, Sahinalp C, Molloy EK, Day CP, and Przytycka TM
- Abstract
Cancer progression is an evolutionary process driven by the selection of cells adapted to gain growth advantage. We present the first formal study on the adaptation of gene expression in subclonal evolution. We model evolutionary changes in gene expression as stochastic Ornstein-Uhlenbeck processes, jointly leveraging the evolutionary history of subclones and single-cell expression data. Applying our model to sublines derived from single cells of a mouse melanoma revealed that sublines with distinct phenotypes are underlined by different patterns of gene expression adaptation, indicating non-genetic mechanisms of cancer evolution. Interestingly, sublines previously observed to be resistant to anti-CTLA-4 treatment showed adaptive expression of genes related to invasion and non-canonical Wnt signaling, whereas sublines that responded to treatment showed adaptive expression of genes related to proliferation and canonical Wnt signaling. Our results suggest that clonal phenotypes emerge as the result of specific adaptivity patterns of gene expression., Competing Interests: Declaration of interests The authors declare no competing interests.
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- 2024
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12. Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long reads.
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Keskus A, Bryant A, Ahmad T, Yoo B, Aganezov S, Goretsky A, Donmez A, Lansdon LA, Rodriguez I, Park J, Liu Y, Cui X, Gardner J, McNulty B, Sacco S, Shetty J, Zhao Y, Tran B, Narzisi G, Helland A, Cook DE, Chang PC, Kolesnikov A, Carroll A, Molloy EK, Pushel I, Guest E, Pastinen T, Shafin K, Miga KH, Malikic S, Day CP, Robine N, Sahinalp C, Dean M, Farooqi MS, Paten B, and Kolmogorov M
- Abstract
Most current studies rely on short-read sequencing to detect somatic structural variation (SV) in cancer genomes. Long-read sequencing offers the advantage of better mappability and long-range phasing, which results in substantial improvements in germline SV detection. However, current long-read SV detection methods do not generalize well to the analysis of somatic SVs in tumor genomes with complex rearrangements, heterogeneity, and aneuploidy. Here, we present Severus: a method for the accurate detection of different types of somatic SVs using a phased breakpoint graph approach. To benchmark various short- and long-read SV detection methods, we sequenced five tumor/normal cell line pairs with Illumina, Nanopore, and PacBio sequencing platforms; on this benchmark Severus showed the highest F1 scores (harmonic mean of the precision and recall) as compared to long-read and short-read methods. We then applied Severus to three clinical cases of pediatric cancer, demonstrating concordance with known genetic findings as well as revealing clinically relevant cryptic rearrangements missed by standard genomic panels., Competing Interests: Competing interests. S.A. is an employee and stockholder of Oxford Nanopore Technologies. A.K., P.C., K.S., D.C., A.C. are employees of Google LLC and own Alphabet stock as part of the standard compensation package. E.G. served on advisory boards for Jazz Pharmaceuticals and Syndax Pharmaceuticals. M.S.F. is part of the speakers bureau for Bayer and PacBio. The remaining authors declare no competing interests.
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- 2024
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13. Melanoma clonal subline analysis uncovers heterogeneity-driven immunotherapy resistance mechanisms.
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Gruen C, Yang HH, Sassano A, Wu E, Gopalan V, Marie KL, Castro A, Mehrabadi FR, Wu CH, Church I, Needle GA, Smith C, Chin S, Ebersole J, Marcelus C, Fon A, Liu H, Malikic S, Sahinalp C, Carter H, Hannenhalli S, Day CP, Lee MP, Merlino G, and Pérez-Guijarro E
- Abstract
Intratumoral heterogeneity (ITH) can promote cancer progression and treatment failure, but the complexity of the regulatory programs and contextual factors involved complicates its study. To understand the specific contribution of ITH to immune checkpoint blockade (ICB) response, we generated single cell-derived clonal sublines from an ICB-sensitive and genetically and phenotypically heterogeneous mouse melanoma model, M4. Genomic and single cell transcriptomic analyses uncovered the diversity of the sublines and evidenced their plasticity. Moreover, a wide range of tumor growth kinetics were observed in vivo , in part associated with mutational profiles and dependent on T cell-response. Further inquiry into melanoma differentiation states and tumor microenvironment (TME) subtypes of untreated tumors from the clonal sublines demonstrated correlations between highly inflamed and differentiated phenotypes with the response to anti-CTLA-4 treatment. Our results demonstrate that M4 sublines generate intratumoral heterogeneity at both levels of intrinsic differentiation status and extrinsic TME profiles, thereby impacting tumor evolution during therapeutic treatment. These clonal sublines proved to be a valuable resource to study the complex determinants of response to ICB, and specifically the role of melanoma plasticity in immune evasion mechanisms.
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- 2023
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14. Author Correction: The evolutionary history of 2,658 cancers.
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Gerstung M, Jolly C, Leshchiner I, Dentro SC, Gonzalez S, Rosebrock D, Mitchell TJ, Rubanova Y, Anur P, Yu K, Tarabichi M, Deshwar A, Wintersinger J, Kleinheinz K, Vázquez-García I, Haase K, Jerman L, Sengupta S, Macintyre G, Malikic S, Donmez N, Livitz DG, Cmero M, Demeulemeester J, Schumacher S, Fan Y, Yao X, Lee J, Schlesner M, Boutros PC, Bowtell DD, Zhu H, Getz G, Imielinski M, Beroukhim R, Sahinalp SC, Ji Y, Peifer M, Markowetz F, Mustonen V, Yuan K, Wang W, Morris QD, Spellman PT, Wedge DC, and Van Loo P
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- 2023
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15. Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes.
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Dentro SC, Leshchiner I, Haase K, Tarabichi M, Wintersinger J, Deshwar AG, Yu K, Rubanova Y, Macintyre G, Demeulemeester J, Vázquez-García I, Kleinheinz K, Livitz DG, Malikic S, Donmez N, Sengupta S, Anur P, Jolly C, Cmero M, Rosebrock D, Schumacher SE, Fan Y, Fittall M, Drews RM, Yao X, Watkins TBK, Lee J, Schlesner M, Zhu H, Adams DJ, McGranahan N, Swanton C, Getz G, Boutros PC, Imielinski M, Beroukhim R, Sahinalp SC, Ji Y, Peifer M, Martincorena I, Markowetz F, Mustonen V, Yuan K, Gerstung M, Spellman PT, Wang W, Morris QD, Wedge DC, and Van Loo P
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- DNA Copy Number Variations, DNA, Neoplasm chemistry, DNA, Neoplasm metabolism, Databases, Genetic, Drug Resistance, Neoplasm genetics, Humans, Neoplasms pathology, Polymorphism, Single Nucleotide, Whole Genome Sequencing, Genetic Heterogeneity, Neoplasms genetics
- Abstract
Intra-tumor heterogeneity (ITH) is a mechanism of therapeutic resistance and therefore an important clinical challenge. However, the extent, origin, and drivers of ITH across cancer types are poorly understood. To address this, we extensively characterize ITH across whole-genome sequences of 2,658 cancer samples spanning 38 cancer types. Nearly all informative samples (95.1%) contain evidence of distinct subclonal expansions with frequent branching relationships between subclones. We observe positive selection of subclonal driver mutations across most cancer types and identify cancer type-specific subclonal patterns of driver gene mutations, fusions, structural variants, and copy number alterations as well as dynamic changes in mutational processes between subclonal expansions. Our results underline the importance of ITH and its drivers in tumor evolution and provide a pan-cancer resource of comprehensively annotated subclonal events from whole-genome sequencing data., Competing Interests: Declaration of interests G.M. and F.M. are cofounders and shareholders of Tailor Bio. R.B. owns equity in Ampressa Therapeutics. G.G. receives research funds from IBM and Pharmacyclics and is an inventor on patent applications related to MuTect, ABSOLUTE, MutSig, MSMuTect, and POLYSOLVER. I.L. is a consultant for PACT Pharma. B.J.R. is a consultant at and has ownership interest (including stock and patents) in Medley Genomics. N.M. has stock options in and has consulted for Achilles Therapeutics. C.S. acknowledges grant support from Pfizer, AstraZeneca, Bristol Myers Squibb, Roche-Ventana, Boehringer-Ingelheim, Archer Dx, and Ono Pharmaceutical; is an AstraZeneca Advisory Board Member and Chief Investigator for the MeRmaiD-1 clinical trial; has consulted for Pfizer, Novartis, GlaxoSmithKline, MSD, Bristol Myers Squibb, Celgene, AstraZeneca, Illumina, Amgen, Genentech, Roche-Ventana, GRAIL, Medicxi, Bicycle Therapeutics, and the Sarah Cannon Research Institute; has stock options in Apogen Biotechnologies, Epic Bioscience, and GRAIL; and has stock options and is co-founder of Achilles Therapeutics., (Copyright © 2021 The Author(s). Published by Elsevier Inc. All rights reserved.)
- Published
- 2021
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16. Identification of conserved evolutionary trajectories in tumors.
- Author
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Hodzic E, Shrestha R, Malikic S, Collins CC, Litchfield K, Turajlic S, and Sahinalp SC
- Subjects
- Humans, Phylogeny, Software, Carcinoma, Non-Small-Cell Lung, Lung Neoplasms
- Abstract
Motivation: As multi-region, time-series and single-cell sequencing data become more widely available; it is becoming clear that certain tumors share evolutionary characteristics with others. In the last few years, several computational methods have been developed with the goal of inferring the subclonal composition and evolutionary history of tumors from tumor biopsy sequencing data. However, the phylogenetic trees that they report differ significantly between tumors (even those with similar characteristics)., Results: In this article, we present a novel combinatorial optimization method, CONETT, for detection of recurrent tumor evolution trajectories. Our method constructs a consensus tree of conserved evolutionary trajectories based on the information about temporal order of alteration events in a set of tumors. We apply our method to previously published datasets of 100 clear-cell renal cell carcinoma and 99 non-small-cell lung cancer patients and identify both conserved trajectories that were reported in the original studies, as well as new trajectories., Availability and Implementation: CONETT is implemented in C++ and available at https://github.com/ehodzic/CONETT., Supplementary Information: Supplementary data are available at Bioinformatics online., (Published by Oxford University Press 2020.)
- Published
- 2020
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17. PhISCS: a combinatorial approach for subperfect tumor phylogeny reconstruction via integrative use of single-cell and bulk sequencing data.
- Author
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Malikic S, Mehrabadi FR, Ciccolella S, Rahman MK, Ricketts C, Haghshenas E, Seidman D, Hach F, Hajirasouliha I, and Sahinalp SC
- Subjects
- Humans, Neoplasms pathology, Computational Biology methods, High-Throughput Nucleotide Sequencing methods, Neoplasms genetics, Phylogeny, Single-Cell Analysis methods
- Abstract
Available computational methods for tumor phylogeny inference via single-cell sequencing (SCS) data typically aim to identify the most likely perfect phylogeny tree satisfying the infinite sites assumption (ISA). However, the limitations of SCS technologies including frequent allele dropout and variable sequence coverage may prohibit a perfect phylogeny. In addition, ISA violations are commonly observed in tumor phylogenies due to the loss of heterozygosity, deletions, and convergent evolution. In order to address such limitations, we introduce the optimal subperfect phylogeny problem which asks to integrate SCS data with matching bulk sequencing data by minimizing a linear combination of potential false negatives (due to allele dropout or variance in sequence coverage), false positives (due to read errors) among mutation calls, and the number of mutations that violate ISA (real or because of incorrect copy number estimation). We then describe a combinatorial formulation to solve this problem which ensures that several lineage constraints imposed by the use of variant allele frequencies (VAFs, derived from bulk sequence data) are satisfied. We express our formulation both in the form of an integer linear program (ILP) and-as a first in tumor phylogeny reconstruction-a Boolean constraint satisfaction problem (CSP) and solve them by leveraging state-of-the-art ILP/CSP solvers. The resulting method, which we name PhISCS, is the first to integrate SCS and bulk sequencing data while accounting for ISA violating mutations. In contrast to the alternative methods, typically based on probabilistic approaches, PhISCS provides a guarantee of optimality in reported solutions. Using simulated and real data sets, we demonstrate that PhISCS is more general and accurate than all available approaches., (© 2019 Malikic et al.; Published by Cold Spring Harbor Laboratory Press.)
- Published
- 2019
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18. A multi-labeled tree dissimilarity measure for comparing "clonal trees" of tumor progression.
- Author
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Karpov N, Malikic S, Rahman MK, and Sahinalp SC
- Abstract
We introduce a new dissimilarity measure between a pair of "clonal trees", each representing the progression and mutational heterogeneity of a tumor sample, constructed by the use of single cell or bulk high throughput sequencing data. In a clonal tree, each vertex represents a specific tumor clone, and is labeled with one or more mutations in a way that each mutation is assigned to the oldest clone that harbors it. Given two clonal trees, our multi-labeled tree dissimilarity (MLTD) measure is defined as the minimum number of mutation/label deletions, (empty) leaf deletions, and vertex (clonal) expansions, applied in any order, to convert each of the two trees to the maximum common tree. We show that the MLTD measure can be computed efficiently in polynomial time and it captures the similarity between trees of different clonal granularity well., Competing Interests: Competing interestsThe authors declare that they have no competing interests.
- Published
- 2019
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19. Collaborative intra-tumor heterogeneity detection.
- Author
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Khakabimamaghani S, Malikic S, Tang J, Ding D, Morin R, Chindelevitch L, and Ester M
- Subjects
- Humans, Mutation, Phylogeny, Sequence Analysis, Neoplasms, Software
- Abstract
Motivation: Despite the remarkable advances in sequencing and computational techniques, noise in the data and complexity of the underlying biological mechanisms render deconvolution of the phylogenetic relationships between cancer mutations difficult. Besides that, the majority of the existing datasets consist of bulk sequencing data of single tumor sample of an individual. Accurate inference of the phylogenetic order of mutations is particularly challenging in these cases and the existing methods are faced with several theoretical limitations. To overcome these limitations, new methods are required for integrating and harnessing the full potential of the existing data., Results: We introduce a method called Hintra for intra-tumor heterogeneity detection. Hintra integrates sequencing data for a cohort of tumors and infers tumor phylogeny for each individual based on the evolutionary information shared between different tumors. Through an iterative process, Hintra learns the repeating evolutionary patterns and uses this information for resolving the phylogenetic ambiguities of individual tumors. The results of synthetic experiments show an improved performance compared to two state-of-the-art methods. The experimental results with a recent Breast Cancer dataset are consistent with the existing knowledge and provide potentially interesting findings., Availability and Implementation: The source code for Hintra is available at https://github.com/sahandk/HINTRA., (© The Author(s) 2019. Published by Oxford University Press.)
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- 2019
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20. Integrative inference of subclonal tumour evolution from single-cell and bulk sequencing data.
- Author
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Malikic S, Jahn K, Kuipers J, Sahinalp SC, and Beerenwinkel N
- Subjects
- Algorithms, Datasets as Topic, Female, High-Throughput Nucleotide Sequencing methods, Humans, Mutation, Phylogeny, Single-Cell Analysis methods, Software, Clonal Evolution genetics, Computational Biology methods, DNA Mutational Analysis methods, Models, Genetic, Neoplasms genetics
- Abstract
Understanding the clonal architecture and evolutionary history of a tumour poses one of the key challenges to overcome treatment failure due to resistant cell populations. Previously, studies on subclonal tumour evolution have been primarily based on bulk sequencing and in some recent cases on single-cell sequencing data. Either data type alone has shortcomings with regard to this task, but methods integrating both data types have been lacking. Here, we present B-SCITE, the first computational approach that infers tumour phylogenies from combined single-cell and bulk sequencing data. Using a comprehensive set of simulated data, we show that B-SCITE systematically outperforms existing methods with respect to tree reconstruction accuracy and subclone identification. B-SCITE provides high-fidelity reconstructions even with a modest number of single cells and in cases where bulk allele frequencies are affected by copy number changes. On real tumour data, B-SCITE generated mutation histories show high concordance with expert generated trees.
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- 2019
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21. Clonality Inference from Single Tumor Samples Using Low-Coverage Sequence Data.
- Author
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Donmez N, Malikic S, Wyatt AW, Gleave ME, Collins CC, and Sahinalp SC
- Subjects
- DNA Copy Number Variations, Gene Frequency, Humans, Models, Genetic, Pattern Recognition, Automated methods, Software, Algorithms, Clonal Evolution, Computational Biology methods, High-Throughput Nucleotide Sequencing methods, Neoplasms genetics, Single-Cell Analysis methods
- Abstract
Inference of intra-tumor heterogeneity can provide valuable insight into cancer evolution. Somatic mutations detected by sequencing can help estimate the purity of a tumor sample and reconstruct its subclonal composition. Although several methods have been developed to infer intra-tumor heterogeneity, the majority of these tools rely on variant allele frequencies as estimated via ultra-deep sequencing from multiple samples of the same tumor. In practice, obtaining sequencing data from a large number of samples per patient is only feasible in a few cancer types such as liquid tumors, or in rare cases involving solid tumors selected for research. We introduce CTPsingle, which aims at inferring the subclonal composition by using low-coverage sequencing data from a single tumor sample. We show that CTPsingle is able to infer the purity and the clonality of single-sample tumors with high accuracy, even restricted to a coverage depth of ∼30 × .
- Published
- 2017
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22. Clonality inference in multiple tumor samples using phylogeny.
- Author
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Malikic S, McPherson AW, Donmez N, and Sahinalp CS
- Subjects
- DNA Mutational Analysis, High-Throughput Nucleotide Sequencing, Humans, Leukemia, Lymphocytic, Chronic, B-Cell genetics, Leukemia, Myeloid, Acute genetics, Mutation, Algorithms, Clonal Evolution, Neoplasms genetics, Phylogeny
- Abstract
Motivation: Intra-tumor heterogeneity presents itself through the evolution of subclones during cancer progression. Although recent research suggests that this heterogeneity has clinical implications, in silico determination of the clonal subpopulations remains a challenge., Results: We address this problem through a novel combinatorial method, named clonality inference in tumors using phylogeny (CITUP), that infers clonal populations and their frequencies while satisfying phylogenetic constraints and is able to exploit data from multiple samples. Using simulated datasets and deep sequencing data from two cancer studies, we show that CITUP predicts clonal frequencies and the underlying phylogeny with high accuracy., Availability and Implementation: CITUP is freely available at: http://sourceforge.net/projects/citup/., Contact: cenk@sfu.ca, Supplementary Information: Supplementary data are available at Bioinformatics online., (© The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)
- Published
- 2015
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