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3. A pan-cancer analysis of transcriptome changes associated with somatic mutations in U2AF1 reveals commonly altered splicing events.

Author

Brooks, Angela N, Choi, Peter S, de Waal, Luc, Sharifnia, Tanaz, Imielinski, Marcin, Saksena, Gordon, Pedamallu, Chandra Sekhar, Sivachenko, Andrey, Rosenberg, Mara, Chmielecki, Juliann, Lawrence, Michael S, DeLuca, David S, Getz, Gad, and Meyerson, Matthew

Subjects
Hela Cells, Humans, Neoplasms, Leukemia, Myeloid, Adenocarcinoma, Lung Neoplasms, Acute Disease, Ribonucleoproteins, Nuclear Proteins, RNA Splice Sites, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression Regulation, Neoplastic, RNA Splicing, Mutation, HEK293 Cells, Transcriptome, Splicing Factor U2AF, HeLa Cells, Human Genome, Hematology, Rare Diseases, Lung, Genetics, Cancer, Lung Cancer, 2.1 Biological and endogenous factors, General Science & Technology
Abstract

Although recurrent somatic mutations in the splicing factor U2AF1 (also known as U2AF35) have been identified in multiple cancer types, the effects of these mutations on the cancer transcriptome have yet to be fully elucidated. Here, we identified splicing alterations associated with U2AF1 mutations across distinct cancers using DNA and RNA sequencing data from The Cancer Genome Atlas (TCGA). Using RNA-Seq data from 182 lung adenocarcinomas and 167 acute myeloid leukemias (AML), in which U2AF1 is somatically mutated in 3-4% of cases, we identified 131 and 369 splicing alterations, respectively, that were significantly associated with U2AF1 mutation. Of these, 30 splicing alterations were statistically significant in both lung adenocarcinoma and AML, including three genes in the Cancer Gene Census, CTNNB1, CHCHD7, and PICALM. Cell line experiments expressing U2AF1 S34F in HeLa cells and in 293T cells provide further support that these altered splicing events are caused by U2AF1 mutation. Consistent with the function of U2AF1 in 3' splice site recognition, we found that S34F/Y mutations cause preferences for CAG over UAG 3' splice site sequences. This report demonstrates consistent effects of U2AF1 mutation on splicing in distinct cancer cell types.

Published
2014

4. Integrated genomic characterization of endometrial carcinoma

Author

Getz, Gad, Gabriel, Stacey B, Cibulskis, Kristian, Lander, Eric, Sivachenko, Andrey, Sougnez, Carrie, Lawrence, Mike, Kandoth, Cyriac, Dooling, David, Fulton, Robert, Fulton, Lucinda, Kalicki-Veizer, Joelle, McLellan, Michael D, O’Laughlin, Michelle, Schmidt, Heather, Wilson, Richard K, Ye, Kai, Ding, Li, Mardis, Elaine R, Ally, Adrian, Balasundaram, Miruna, Birol, Inanc, Butterfield, Yaron SN, Carlsen, Rebecca, Carter, Candace, Chu, Andy, Chuah, Eric, Chun, Hye-Jung E, Dhalla, Noreen, Guin, Ranabir, Hirst, Carrie, Holt, Robert A, Jones, Steven JM, Lee, Darlene, Li, Haiyan I, Marra, Marco A, Mayo, Michael, Moore, Richard A, Mungall, Andrew J, Plettner, Patrick, Schein, Jacqueline E, Sipahimalani, Payal, Tam, Angela, Varhol, Richard J, Gordon Robertson, A, Cherniack, Andrew D, Pashtan, Itai, Saksena, Gordon, Onofrio, Robert C, Schumacher, Steven E, Tabak, Barbara, Carter, Scott L, Hernandez, Bryan, Gentry, Jeff, Salvesen, Helga B, Ardlie, Kristin, Winckler, Wendy, Beroukhim, Rameen, Meyerson, Matthew, Hadjipanayis, Angela, Lee, Semin, Mahadeshwar, Harshad S, Park, Peter, Protopopov, Alexei, Ren, Xiaojia, Seth, Sahil, Song, Xingzhi, Tang, Jiabin, Xi, Ruibin, Yang, Lixing, Zeng, Dong, Kucherlapati, Raju, Chin, Lynda, Zhang, Jianhua, Todd Auman, J, Balu, Saianand, Bodenheimer, Tom, Buda, Elizabeth, Neil Hayes, D, Hoyle, Alan P, Jefferys, Stuart R, Jones, Corbin D, Meng, Shaowu, Mieczkowski, Piotr A, Mose, Lisle E, Parker, Joel S, Perou, Charles M, Roach, Jeff, Shi, Yan, Simons, Janae V, Soloway, Mathew G, Tan, Donghui, Topal, Michael D, Waring, Scot, Wu, Junyuan, Hoadley, Katherine A, Baylin, Stephen B, and Bootwalla, Moiz S

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Oncology and Carcinogenesis, Reproductive Medicine, Human Genome, Uterine Cancer, Cancer, Women's Health, Biotechnology, Cancer Genomics, 5.1 Pharmaceuticals, Breast Neoplasms, Chromosome Aberrations, DNA Copy Number Variations, DNA Mutational Analysis, DNA Polymerase II, DNA-Binding Proteins, Endometrial Neoplasms, Exome, Female, Gene Expression Regulation, Neoplastic, Genome, Human, Genomics, Humans, Ovarian Neoplasms, Poly-ADP-Ribose Binding Proteins, Signal Transduction, Transcription Factors, Cancer Genome Atlas Research Network, General Science & Technology
Abstract

We performed an integrated genomic, transcriptomic and proteomic characterization of 373 endometrial carcinomas using array- and sequencing-based technologies. Uterine serous tumours and ∼25% of high-grade endometrioid tumours had extensive copy number alterations, few DNA methylation changes, low oestrogen receptor/progesterone receptor levels, and frequent TP53 mutations. Most endometrioid tumours had few copy number alterations or TP53 mutations, but frequent mutations in PTEN, CTNNB1, PIK3CA, ARID1A and KRAS and novel mutations in the SWI/SNF chromatin remodelling complex gene ARID5B. A subset of endometrioid tumours that we identified had a markedly increased transversion mutation frequency and newly identified hotspot mutations in POLE. Our results classified endometrial cancers into four categories: POLE ultramutated, microsatellite instability hypermutated, copy-number low, and copy-number high. Uterine serous carcinomas share genomic features with ovarian serous and basal-like breast carcinomas. We demonstrated that the genomic features of endometrial carcinomas permit a reclassification that may affect post-surgical adjuvant treatment for women with aggressive tumours.

Published
2013

5. Comprehensive genomic characterization of squamous cell lung cancers

Author

Hammerman, Peter S, Lawrence, Michael S, Voet, Douglas, Jing, Rui, Cibulskis, Kristian, Sivachenko, Andrey, Stojanov, Petar, McKenna, Aaron, Lander, Eric S, Gabriel, Stacey, Getz, Gad, Sougnez, Carrie, Imielinski, Marcin, Helman, Elena, Hernandez, Bryan, Pho, Nam H, Meyerson, Matthew, Chu, Andy, Chun, Hye-Jung E, Mungall, Andrew J, Pleasance, Erin, Gordon Robertson, A, Sipahimalani, Payal, Stoll, Dominik, Balasundaram, Miruna, Birol, Inanc, Butterfield, Yaron SN, Chuah, Eric, Coope, Robin JN, Corbett, Richard, Dhalla, Noreen, Guin, Ranabir, He, An, Hirst, Carrie, Hirst, Martin, Holt, Robert A, Lee, Darlene, Li, Haiyan I, Mayo, Michael, Moore, Richard A, Mungall, Karen, Ming Nip, Ka, Olshen, Adam, Schein, Jacqueline E, Slobodan, Jared R, Tam, Angela, Thiessen, Nina, Varhol, Richard, Zeng, Thomas, Zhao, Yongjun, Jones, Steven JM, Marra, Marco A, Saksena, Gordon, Cherniack, Andrew D, Schumacher, Stephen E, Tabak, Barbara, Carter, Scott L, Nguyen, Huy, Onofrio, Robert C, Crenshaw, Andrew, Ardlie, Kristin, Beroukhim, Rameen, Winckler, Wendy, Protopopov, Alexei, Zhang, Jianhua, Hadjipanayis, Angela, Lee, Semin, Xi, Ruibin, Yang, Lixing, Ren, Xiaojia, Zhang, Hailei, Shukla, Sachet, Chen, Peng-Chieh, Haseley, Psalm, Lee, Eunjung, Chin, Lynda, Park, Peter J, Kucherlapati, Raju, Socci, Nicholas D, Liang, Yupu, Schultz, Nikolaus, Borsu, Laetitia, Lash, Alex E, Viale, Agnes, Sander, Chris, Ladanyi, Marc, Todd Auman, J, Hoadley, Katherine A, Wilkerson, Matthew D, Shi, Yan, Liquori, Christina, Meng, Shaowu, Li, Ling, Turman, Yidi J, Topal, Michael D, and Tan, Donghui

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Oncology and Carcinogenesis, Rare Diseases, Biotechnology, Cancer Genomics, Human Genome, Lung, Cancer, Lung Cancer, Orphan Drug, 2.1 Biological and endogenous factors, Adenocarcinoma, Adenocarcinoma of Lung, Carcinoma, Squamous Cell, DNA Mutational Analysis, Gene Deletion, Gene Expression Profiling, Gene Expression Regulation, Neoplastic, Genes, p16, Genes, p53, Genome, Human, Genomics, Humans, Lung Neoplasms, Molecular Targeted Therapy, Mutation, Mutation Rate, Phosphatidylinositol 3-Kinases, Signal Transduction, Cancer Genome Atlas Research Network, General Science & Technology
Abstract

Lung squamous cell carcinoma is a common type of lung cancer, causing approximately 400,000 deaths per year worldwide. Genomic alterations in squamous cell lung cancers have not been comprehensively characterized, and no molecularly targeted agents have been specifically developed for its treatment. As part of The Cancer Genome Atlas, here we profile 178 lung squamous cell carcinomas to provide a comprehensive landscape of genomic and epigenomic alterations. We show that the tumour type is characterized by complex genomic alterations, with a mean of 360 exonic mutations, 165 genomic rearrangements, and 323 segments of copy number alteration per tumour. We find statistically recurrent mutations in 11 genes, including mutation of TP53 in nearly all specimens. Previously unreported loss-of-function mutations are seen in the HLA-A class I major histocompatibility gene. Significantly altered pathways included NFE2L2 and KEAP1 in 34%, squamous differentiation genes in 44%, phosphatidylinositol-3-OH kinase pathway genes in 47%, and CDKN2A and RB1 in 72% of tumours. We identified a potential therapeutic target in most tumours, offering new avenues of investigation for the treatment of squamous cell lung cancers.

Published
2012

6. Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations.

Author

Pugh, Trevor J, Weeraratne, Shyamal Dilhan, Archer, Tenley C, Pomeranz Krummel, Daniel A, Auclair, Daniel, Bochicchio, James, Carneiro, Mauricio O, Carter, Scott L, Cibulskis, Kristian, Erlich, Rachel L, Greulich, Heidi, Lawrence, Michael S, Lennon, Niall J, McKenna, Aaron, Meldrim, James, Ramos, Alex H, Ross, Michael G, Russ, Carsten, Shefler, Erica, Sivachenko, Andrey, Sogoloff, Brian, Stojanov, Petar, Tamayo, Pablo, Mesirov, Jill P, Amani, Vladimir, Teider, Natalia, Sengupta, Soma, Francois, Jessica Pierre, Northcott, Paul A, Taylor, Michael D, Yu, Furong, Crabtree, Gerald R, Kautzman, Amanda G, Gabriel, Stacey B, Getz, Gad, Jäger, Natalie, Jones, David TW, Lichter, Peter, Pfister, Stefan M, Roberts, Thomas M, Meyerson, Matthew, Pomeroy, Scott L, and Cho, Yoon-Jae

Subjects
Humans, Medulloblastoma, Cerebellar Neoplasms, DNA Helicases, Histone-Lysine N-Methyltransferase, Intracellular Signaling Peptides and Proteins, DNA-Binding Proteins, Receptors, Cell Surface, Neoplasm Proteins, Proto-Oncogene Proteins, Nuclear Proteins, Transcription Factors, Repressor Proteins, Signal Transduction, Protein Structure, Tertiary, Mutation, Genome, Human, Models, Molecular, Child, Tumor Suppressor Protein p53, Wnt Proteins, beta Catenin, TCF Transcription Factors, Hedgehog Proteins, DEAD-box RNA Helicases, Promoter Regions, Genetic, LIM Domain Proteins, Exome, Patched Receptors, Patched-1 Receptor, Histone Methyltransferases, Brain Disorders, Pediatric Cancer, Cancer, Human Genome, Biotechnology, Pediatric, Brain Cancer, Rare Diseases, Genetics, Neurosciences, Genetic Testing, Aetiology, 2.1 Biological and endogenous factors, General Science & Technology
Abstract

Medulloblastomas are the most common malignant brain tumours in children. Identifying and understanding the genetic events that drive these tumours is critical for the development of more effective diagnostic, prognostic and therapeutic strategies. Recently, our group and others described distinct molecular subtypes of medulloblastoma on the basis of transcriptional and copy number profiles. Here we use whole-exome hybrid capture and deep sequencing to identify somatic mutations across the coding regions of 92 primary medulloblastoma/normal pairs. Overall, medulloblastomas have low mutation rates consistent with other paediatric tumours, with a median of 0.35 non-silent mutations per megabase. We identified twelve genes mutated at statistically significant frequencies, including previously known mutated genes in medulloblastoma such as CTNNB1, PTCH1, MLL2, SMARCA4 and TP53. Recurrent somatic mutations were newly identified in an RNA helicase gene, DDX3X, often concurrent with CTNNB1 mutations, and in the nuclear co-repressor (N-CoR) complex genes GPS2, BCOR and LDB1. We show that mutant DDX3X potentiates transactivation of a TCF promoter and enhances cell viability in combination with mutant, but not wild-type, β-catenin. Together, our study reveals the alteration of WNT, hedgehog, histone methyltransferase and now N-CoR pathways across medulloblastomas and within specific subtypes of this disease, and nominates the RNA helicase DDX3X as a component of pathogenic β-catenin signalling in medulloblastoma.

Published
2012

7. Supplementary Table S7 from The Genomic Landscape of Pediatric Ewing Sarcoma

Author

Crompton, Brian D., primary, Stewart, Chip, primary, Taylor-Weiner, Amaro, primary, Alexe, Gabriela, primary, Kurek, Kyle C., primary, Calicchio, Monica L., primary, Kiezun, Adam, primary, Carter, Scott L., primary, Shukla, Sachet A., primary, Mehta, Swapnil S., primary, Thorner, Aaron R., primary, de Torres, Carmen, primary, Lavarino, Cinzia, primary, Suñol, Mariona, primary, McKenna, Aaron, primary, Sivachenko, Andrey, primary, Cibulskis, Kristian, primary, Lawrence, Michael S., primary, Stojanov, Petar, primary, Rosenberg, Mara, primary, Ambrogio, Lauren, primary, Auclair, Daniel, primary, Seepo, Sara, primary, Blumenstiel, Brendan, primary, DeFelice, Matthew, primary, Imaz-Rosshandler, Ivan, primary, Schwarz-Cruz y Celis, Angela, primary, Rivera, Miguel N., primary, Rodriguez-Galindo, Carlos, primary, Fleming, Mark D., primary, Golub, Todd R., primary, Getz, Gad, primary, Mora, Jaume, primary, and Stegmaier, Kimberly, primary

Published
2023
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8. Supplementary Methods, Figure Legends, Figures S1 - S6, Tables S1, S3 - S6, S8 - S15, S17 from The Genomic Landscape of Pediatric Ewing Sarcoma

Author

Crompton, Brian D., primary, Stewart, Chip, primary, Taylor-Weiner, Amaro, primary, Alexe, Gabriela, primary, Kurek, Kyle C., primary, Calicchio, Monica L., primary, Kiezun, Adam, primary, Carter, Scott L., primary, Shukla, Sachet A., primary, Mehta, Swapnil S., primary, Thorner, Aaron R., primary, de Torres, Carmen, primary, Lavarino, Cinzia, primary, Suñol, Mariona, primary, McKenna, Aaron, primary, Sivachenko, Andrey, primary, Cibulskis, Kristian, primary, Lawrence, Michael S., primary, Stojanov, Petar, primary, Rosenberg, Mara, primary, Ambrogio, Lauren, primary, Auclair, Daniel, primary, Seepo, Sara, primary, Blumenstiel, Brendan, primary, DeFelice, Matthew, primary, Imaz-Rosshandler, Ivan, primary, Schwarz-Cruz y Celis, Angela, primary, Rivera, Miguel N., primary, Rodriguez-Galindo, Carlos, primary, Fleming, Mark D., primary, Golub, Todd R., primary, Getz, Gad, primary, Mora, Jaume, primary, and Stegmaier, Kimberly, primary

Published
2023
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9. Supplementary Figure 3 from Inhibitor-Sensitive FGFR2 and FGFR3 Mutations in Lung Squamous Cell Carcinoma

Author

Liao, Rachel G., primary, Jung, Joonil, primary, Tchaicha, Jeremy, primary, Wilkerson, Matthew D., primary, Sivachenko, Andrey, primary, Beauchamp, Ellen M., primary, Liu, Qingsong, primary, Pugh, Trevor J., primary, Pedamallu, Chandra Sekhar, primary, Hayes, D. Neil, primary, Gray, Nathanael S., primary, Getz, Gad, primary, Wong, Kwok-Kin, primary, Haddad, Robert I., primary, Meyerson, Matthew, primary, and Hammerman, Peter S., primary

Published
2023
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10. Supplementary Figure 5 from Inhibitor-Sensitive FGFR2 and FGFR3 Mutations in Lung Squamous Cell Carcinoma

Author

Liao, Rachel G., primary, Jung, Joonil, primary, Tchaicha, Jeremy, primary, Wilkerson, Matthew D., primary, Sivachenko, Andrey, primary, Beauchamp, Ellen M., primary, Liu, Qingsong, primary, Pugh, Trevor J., primary, Pedamallu, Chandra Sekhar, primary, Hayes, D. Neil, primary, Gray, Nathanael S., primary, Getz, Gad, primary, Wong, Kwok-Kin, primary, Haddad, Robert I., primary, Meyerson, Matthew, primary, and Hammerman, Peter S., primary

Published
2023
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11. Supplementary Figure 4 from Inhibitor-Sensitive FGFR2 and FGFR3 Mutations in Lung Squamous Cell Carcinoma

Author

Liao, Rachel G., primary, Jung, Joonil, primary, Tchaicha, Jeremy, primary, Wilkerson, Matthew D., primary, Sivachenko, Andrey, primary, Beauchamp, Ellen M., primary, Liu, Qingsong, primary, Pugh, Trevor J., primary, Pedamallu, Chandra Sekhar, primary, Hayes, D. Neil, primary, Gray, Nathanael S., primary, Getz, Gad, primary, Wong, Kwok-Kin, primary, Haddad, Robert I., primary, Meyerson, Matthew, primary, and Hammerman, Peter S., primary

Published
2023
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12. Supplementary Table 2 from Inhibitor-Sensitive FGFR2 and FGFR3 Mutations in Lung Squamous Cell Carcinoma

Author

Liao, Rachel G., primary, Jung, Joonil, primary, Tchaicha, Jeremy, primary, Wilkerson, Matthew D., primary, Sivachenko, Andrey, primary, Beauchamp, Ellen M., primary, Liu, Qingsong, primary, Pugh, Trevor J., primary, Pedamallu, Chandra Sekhar, primary, Hayes, D. Neil, primary, Gray, Nathanael S., primary, Getz, Gad, primary, Wong, Kwok-Kin, primary, Haddad, Robert I., primary, Meyerson, Matthew, primary, and Hammerman, Peter S., primary

Published
2023
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13. Supplementary Figure 2 from Inhibitor-Sensitive FGFR2 and FGFR3 Mutations in Lung Squamous Cell Carcinoma

Author

Liao, Rachel G., primary, Jung, Joonil, primary, Tchaicha, Jeremy, primary, Wilkerson, Matthew D., primary, Sivachenko, Andrey, primary, Beauchamp, Ellen M., primary, Liu, Qingsong, primary, Pugh, Trevor J., primary, Pedamallu, Chandra Sekhar, primary, Hayes, D. Neil, primary, Gray, Nathanael S., primary, Getz, Gad, primary, Wong, Kwok-Kin, primary, Haddad, Robert I., primary, Meyerson, Matthew, primary, and Hammerman, Peter S., primary

Published
2023
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14. Supplementary Figure 1 from Inhibitor-Sensitive FGFR2 and FGFR3 Mutations in Lung Squamous Cell Carcinoma

Author

Liao, Rachel G., primary, Jung, Joonil, primary, Tchaicha, Jeremy, primary, Wilkerson, Matthew D., primary, Sivachenko, Andrey, primary, Beauchamp, Ellen M., primary, Liu, Qingsong, primary, Pugh, Trevor J., primary, Pedamallu, Chandra Sekhar, primary, Hayes, D. Neil, primary, Gray, Nathanael S., primary, Getz, Gad, primary, Wong, Kwok-Kin, primary, Haddad, Robert I., primary, Meyerson, Matthew, primary, and Hammerman, Peter S., primary

Published
2023
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15. Supplementary Table 1 from Inhibitor-Sensitive FGFR2 and FGFR3 Mutations in Lung Squamous Cell Carcinoma

Author

Liao, Rachel G., primary, Jung, Joonil, primary, Tchaicha, Jeremy, primary, Wilkerson, Matthew D., primary, Sivachenko, Andrey, primary, Beauchamp, Ellen M., primary, Liu, Qingsong, primary, Pugh, Trevor J., primary, Pedamallu, Chandra Sekhar, primary, Hayes, D. Neil, primary, Gray, Nathanael S., primary, Getz, Gad, primary, Wong, Kwok-Kin, primary, Haddad, Robert I., primary, Meyerson, Matthew, primary, and Hammerman, Peter S., primary

Published
2023
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16. Data from Inhibitor-Sensitive FGFR2 and FGFR3 Mutations in Lung Squamous Cell Carcinoma

Author

Liao, Rachel G., primary, Jung, Joonil, primary, Tchaicha, Jeremy, primary, Wilkerson, Matthew D., primary, Sivachenko, Andrey, primary, Beauchamp, Ellen M., primary, Liu, Qingsong, primary, Pugh, Trevor J., primary, Pedamallu, Chandra Sekhar, primary, Hayes, D. Neil, primary, Gray, Nathanael S., primary, Getz, Gad, primary, Wong, Kwok-Kin, primary, Haddad, Robert I., primary, Meyerson, Matthew, primary, and Hammerman, Peter S., primary

Published
2023
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17. Supplementary Figure Legend from Inhibitor-Sensitive FGFR2 and FGFR3 Mutations in Lung Squamous Cell Carcinoma

Author

Liao, Rachel G., primary, Jung, Joonil, primary, Tchaicha, Jeremy, primary, Wilkerson, Matthew D., primary, Sivachenko, Andrey, primary, Beauchamp, Ellen M., primary, Liu, Qingsong, primary, Pugh, Trevor J., primary, Pedamallu, Chandra Sekhar, primary, Hayes, D. Neil, primary, Gray, Nathanael S., primary, Getz, Gad, primary, Wong, Kwok-Kin, primary, Haddad, Robert I., primary, Meyerson, Matthew, primary, and Hammerman, Peter S., primary

Published
2023
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18. Supplementary Figure 6 from Inhibitor-Sensitive FGFR2 and FGFR3 Mutations in Lung Squamous Cell Carcinoma

Author

Liao, Rachel G., primary, Jung, Joonil, primary, Tchaicha, Jeremy, primary, Wilkerson, Matthew D., primary, Sivachenko, Andrey, primary, Beauchamp, Ellen M., primary, Liu, Qingsong, primary, Pugh, Trevor J., primary, Pedamallu, Chandra Sekhar, primary, Hayes, D. Neil, primary, Gray, Nathanael S., primary, Getz, Gad, primary, Wong, Kwok-Kin, primary, Haddad, Robert I., primary, Meyerson, Matthew, primary, and Hammerman, Peter S., primary

Published
2023
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19. Complementary genomic approaches highlight the P13K/mTOR pathway as a common vulnerability in osteosarcoma

Author

Perry, Jennifer A., Kiezun, Adam, Tonzi, Peter, Van Allen, Eliezer M., Carter, Scott L., Baca, Sylvan C., Cowley, Glenn S., Bhatt, Ami S., Rheinbay, Esther, Pedamallu, Chandra Sekhar, Helman, Elena, Taylor-Weiner, Amaro, McKenna, Aaron, DeLuca, David S., Lawrence, Michael S., Ambrogio, Lauren, Sougnez, Carrie, Sivachenko, Andrey, Walensky, Loren D., Wagle, Nikhil, Mora, Jaume, de Torres, Carmen, Lavarino, Cinzia, Dos Santos Aguiar, Simone, Yunes, Jose Andres, Brandalise, Silvia Regina, Mercado-Celis, Gabriela Elisa, Melendez-Zajgla, Jorge, Cárdenas-Cardós, Rocío, Velasco-Hidalgo, Liliana, Roberts, Charles W. M., Garraway, Levi A., Rodriguez-Galindo, Carlos, Gabriel, Stacey B., Lander, Eric S., Golub, Todd R., Orkin, Stuart H., Getz, Gad, and Janeway, Katherine A.

Published
2014

20. Punctuated Evolution of Prostate Cancer Genomes

Author

Baca, Sylvan C., Prandi, Davide, Lawrence, Michael S., Mosquera, Juan Miguel, Romanel, Alessandro, Drier, Yotam, Park, Kyung, Kitabayashi, Naoki, MacDonald, Theresa Y., Ghandi, Mahmoud, Van Allen, Eliezer, Kryukov, Gregory V., Sboner, Andrea, Theurillat, Jean-Philippe, Soong, T. David, Nickerson, Elizabeth, Auclair, Daniel, Tewari, Ashutosh, Beltran, Himisha, Onofrio, Robert C., Boysen, Gunther, Guiducci, Candace, Barbieri, Christopher E., Cibulskis, Kristian, Sivachenko, Andrey, Carter, Scott L., Saksena, Gordon, Voet, Douglas, Ramos, Alex H., Winckler, Wendy, Cipicchio, Michelle, Ardlie, Kristin, Kantoff, Philip W., Berger, Michael F., Gabriel, Stacey B., Golub, Todd R., Meyerson, Matthew, Lander, Eric S., Elemento, Olivier, Getz, Gad, Demichelis, Francesca, Rubin, Mark A., and Garraway, Levi A.

Published
2013
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21. Evolution and Impact of Subclonal Mutations in Chronic Lymphocytic Leukemia

Author

Landau, Dan A., Carter, Scott L., Stojanov, Petar, McKenna, Aaron, Stevenson, Kristen, Lawrence, Michael S., Sougnez, Carrie, Stewart, Chip, Sivachenko, Andrey, Wang, Lili, Wan, Youzhong, Zhang, Wandi, Shukla, Sachet A., Vartanov, Alexander, Fernandes, Stacey M., Saksena, Gordon, Cibulskis, Kristian, Tesar, Bethany, Gabriel, Stacey, Hacohen, Nir, Meyerson, Matthew, Lander, Eric S., Neuberg, Donna, Brown, Jennifer R., Getz, Gad, and Wu, Catherine J.

Published
2013
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22. Mapping the Hallmarks of Lung Adenocarcinoma with Massively Parallel Sequencing

Author

Imielinski, Marcin, Berger, Alice H., Hammerman, Peter S., Hernandez, Bryan, Pugh, Trevor J., Hodis, Eran, Cho, Jeonghee, Suh, James, Capelletti, Marzia, Sivachenko, Andrey, Sougnez, Carrie, Auclair, Daniel, Lawrence, Michael S., Stojanov, Petar, Cibulskis, Kristian, Choi, Kyusam, de Waal, Luc, Sharifnia, Tanaz, Brooks, Angela, Greulich, Heidi, Banerji, Shantanu, Zander, Thomas, Seidel, Danila, Leenders, Frauke, Ansén, Sascha, Ludwig, Corinna, Engel-Riedel, Walburga, Stoelben, Erich, Wolf, Jürgen, Goparju, Chandra, Thompson, Kristin, Winckler, Wendy, Kwiatkowski, David, Johnson, Bruce E., Jänne, Pasi A., Miller, Vincent A., Pao, William, Travis, William D., Pass, Harvey I., Gabriel, Stacey B., Lander, Eric S., Thomas, Roman K., Garraway, Levi A., Getz, Gad, and Meyerson, Matthew

Published
2012
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23. A Landscape of Driver Mutations in Melanoma

Author

Hodis, Eran, Watson, Ian R., Kryukov, Gregory V., Arold, Stefan T., Imielinski, Marcin, Theurillat, Jean-Philippe, Nickerson, Elizabeth, Auclair, Daniel, Li, Liren, Place, Chelsea, DiCara, Daniel, Ramos, Alex H., Lawrence, Michael S., Cibulskis, Kristian, Sivachenko, Andrey, Voet, Douglas, Saksena, Gordon, Stransky, Nicolas, Onofrio, Robert C., Winckler, Wendy, Ardlie, Kristin, Wagle, Nikhil, Wargo, Jennifer, Chong, Kelly, Morton, Donald L., Stemke-Hale, Katherine, Chen, Guo, Noble, Michael, Meyerson, Matthew, Ladbury, John E., Davies, Michael A., Gershenwald, Jeffrey E., Wagner, Stephan N., Hoon, Dave S.B., Schadendorf, Dirk, Lander, Eric S., Gabriel, Stacey B., Getz, Gad, Garraway, Levi A., and Chin, Lynda

Published
2012
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24. The Mutational Landscape of Head and Neck Squamous Cell Carcinoma

Author

Stransky, Nicolas, Egloff, Ann Marie, Tward, Aaron D., Kostic, Aleksandar D., Cibulskis, Kristian, Sivachenko, Andrey, Kryukov, Gregory V., Lawrence, Michael S., Sougnez, Carrie, McKenna, Aaron, Shefler, Erica, Ramos, Alex H., Stojanov, Petar, Carter, Scott L., Voet, Douglas, Cortés, Maria L., Auclair, Daniel, Berger, Michael F., Saksena, Gordon, Guiducci, Candace, Onofrio, Robert C., Parkin, Melissa, Romkes, Marjorie, Weissfeld, Joel L., Seethala, Raja R., Wang, Lin, Rangel-Escareño, Claudia, Fernandez-Lopez, Juan Carlos, Hidalgo-Miranda, Alfredo, Melendez-Zajgla, Jorge, Winckler, Wendy, Ardlie, Kristin, Gabriel, Stacey B., Meyerson, Matthew, Lander, Eric S., Getz, Gad, Golub, Todd R., Garraway, Levi A., and Grandis, Jennifer R.

Published
2011
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25. Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine

Author

Van Allen, Eliezer M., Wagle, Nikhil, Stojanov, Petar, Perrin, Danielle L., Cibulskis, Kristian, Marlow, Sara, Jane-Valbuena, Judit, Friedrich, Dennis C., Kryukov, Gregory, Carter, Scott L., McKenna, Aaron, Sivachenko, Andrey, Rosenberg, Mara, Kiezun, Adam, Voet, Douglas, Lawrence, Michael, Lichtenstein, Lee T., Gentry, Jeff G., Huang, Franklin W., Fostel, Jennifer, Farlow, Deborah, Barbie, David, Gandhi, Leena, Lander, Eric S., Gray, Stacy W., Joffe, Steven, Janne, Pasi, Garber, Judy, MacConaill, Laura, Lindeman, Neal, Rollins, Barrett, Kantoff, Philip, Fisher, Sheila A., Gabriel, Stacey, Getz, Gad, and Garraway, Levi A.

Subjects
Nucleotide sequencing -- Usage -- Research, DNA sequencing -- Usage -- Research, Cancer -- Diagnosis -- Genetic aspects -- Research, Biological sciences, Health
Abstract

Translating whole-exome sequencing (WES) for prospective clinical use may have an impact on the care of patients with cancer; however, multiple innovations are necessary for clinical implementation. These include rapid and robust WES of DNA derived from formalin-fixed, paraffin-embedded tumor tissue, analytical output similar to data from frozen samples and clinical interpretation of WES data for prospective use. Here, we describe a prospective clinical WES platform for archival formalin-fixed, paraffin-embedded tumor samples. The platform employs computational methods for effective clinical analysis and interpretation of WES data. When applied retrospectively to 511 exomes, the interpretative framework revealed a 'long tail' of somatic alterations in clinically important genes. Prospective application of this approach identified clinically relevant alterations in 15 out of 16 patients. In one patient, previously undetected findings guided clinical trial enrollment, leading to an objective clinical response. Overall, this methodology may inform the widespread implementation of precision cancer medicine., Massively parallel sequencing approaches such as WES have elucidated the landscape of genetic alterations in many tumor types and revealed biological insights relevant to clinical contexts (1). The increased practical [...]

Published
2014
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26. Sequence analysis of mutations and translocations across breast cancer subtypes

Author

Banerji, Shantanu, Cibulskis, Kristian, Rangel-Escareno, Claudia, Brown, Kristin K., Carter, Scott L., Frederick, Abbie M., Lawrence, Michael S., Sivachenko, Andrey Y., Sougnez, Carrie, Zou, Lihua, Cortes, Maria L., Fernandez-Lopez, Juan C., Peng, Shouyong, Ardlie, Kristin G., Auclair, Daniel, Bautista-Pina, Veronica, Duke, Fujiko, Francis, Joshua, Jung, Joonil, Maffuz-Aziz, Antonio, Onofrio, Robert C., Parkin, Melissa, Pho, Nam H., Quintanar-Jurado, Valeria, Ramos, Alex H., Rebollar-Vega, Rosa, Rodriguez-Cuevas, Sergio, Romero-Cordoba, Sandra L., Schumacher, Steven E., Stransky, Nicolas, Thompson, Kristin M., Uribe-Figueroa, Laura, Baselga, Jose, Beroukhim, Rameen, Polyak, Kornelia, Sgroi, Dennis C., Richardson, Andrea L., Jimenez-Sanchez, Gerardo, Lander, Eric S., Gabriel, Stacey B., Garraway, Levi A., Golub, Todd R., Melendez-Zajgla, Jorge, Toker, Alex, Getz, Gad, Hidalgo-Miranda, Alfredo, and Meyerson, Matthew

Subjects
Gene mutations -- Research, Exome sequencing -- Research, Translocation (Genetics) -- Research, Cancer -- Genetic aspects, Breast cancer -- Genetic aspects -- Analysis -- Research, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): Shantanu Banerji [1, 2, 3, 15, 16]; Kristian Cibulskis [1, 16]; Claudia Rangel-Escareno [4, 16]; Kristin K. Brown [5, 16]; Scott L. Carter [1]; Abbie M. Frederick [1]; Michael [...]

Published
2012
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28. Comprehensive molecular characterization of urothelial bladder carcinoma

Author

Weinstein, John N., Akbani, Rehan, Broom, Bradley M., Wang, Wenyi, Verhaak, Roeland G. W., McConkey, David, Lerner, Seth, Morgan, Margaret, Creighton, Chad J., Smith, Carolyn, Kwiatkowski, David J., Cherniack, Andrew D., Kim, Jaegil, Pedamallu, Chandra Sekhar, Noble, Michael S., Al-Ahmadie, Hikmat A., Reuter, Victor E., Rosenberg, Jonathan E., Bajorin, Dean F., Bochner, Bernard H., Solit, David B., Koppie, Theresa, Robinson, Brian, Gordenin, Dmitry A., Fargo, David, Klimczak, Leszek J., Roberts, Steven A., Au, Jessie, Laird, Peter W., Hinoue, Toshinori, Schultz, Nikolaus, Ramirez, Ricardo, Hansel, Donna, Hoadley, Katherine A., Kim, William Y., Damrauer, Jeffrey S., Baylin, Stephen B., Mungall, Andrew J., Robertson, Gordon A., Chu., Andy, Sougnez, Carrie, Cibulskis, Kristian, Lichtenstein, Lee, Sivachenko, Andrey, Stewart, Chip, Lawrence, Michael S., Getz, Gad, Lander, Eric, Gabriel., Stacey B., Donehower, Lawrence, Carter, Scott L., Saksena, Gordon, Schumacher, Steven E., Freeman, Samuel S., Jung, Joonil, Bhatt, Ami S., Pugh, Trevor, Beroukhim, Rameen, Gabriel, Stacey B., Meyerson, Matthew, Chu, Andy, Ally, Adrian, Balasundaram, Miruna, Butterfield, Yaron S. N., Dhalla, Noreen, Hirst, Carrie, Holt, Robert A., Jones, Steven J. M., Lee, Darlene, Li, Haiyan I., Marra, Marco A., Mayo, Michael, Moore, Richard A., Schein, Jacqueline E., Sipahimalani, Payal, Tam, Angela, Thiessen, Nina, Wong, Tina, Wye, Natasja, Bowlby, Reanne, Chuah, Eric, Guin, Ranabir, Shen, Hui, Bootwalla, Moiz S., Jr, Timothy Triche, Lai, Phillip H., Van Den Berg, David J., Weisenberger, Daniel J., Balu, Saianand, Bodenheimer, Tom, Damrauer Alan P. Hoyle, Jeffrey S., Jefferys, Stuart R., Meng, Shaowu, Mose, Lisle E., Simons, Janae V., Soloway, Mathew G., Wu, Junyuan, Parker, Joel S., Hayes, Neil D., Roach, Jeffrey, Buda, Elizabeth, Jones, Corbin D., Mieczkowski, Piotr A., Tan, Donghui, Veluvolu, Umadevi, Waring, Scot, Auman, Todd J., Perou, Charles M., Wilkerson, Matthew D., Santoso, Netty, Parfenov, Michael, Ren, Xiaojia, Pantazi, Angeliki, Hadjipanayis, Angela, Seidman, Jonathan, Kucherlapati, Raju, Lee, Semin, Yang, Lixing, Park, Peter J., Xu, Andrew Wei, Protopopov, Alexei, Zhang, Jianhua, Bristow, Christopher, Mahadeshwar, Harshad S., Seth, Sahil, Song, Xingzhi, Tang, Jiabin, Zeng, Dong, Chin, Lynda, Guo, Charles, Casasent, Tod D., Liu, Wenbin, Ju, Zhenlin, Motter, Thomas, Peng, Bo, Ryan, Michael, Su, Xiaoping, Yang, Ji-Yeon, Lorenzi, Philip L., Yao, Hui, Zhang, Nianxiang, Zhang, Jiexin, Mills, Gordon B., Cho, Juok, DiCara, Daniel, Frazer, Scott, Gehlenborg, Nils, Heiman, David I., Lin, Pei, Liu, Yingchun, Stojanov, Petar, Voet, Doug, Zhang, Hailei, Zou, Lihua, Bernard, Brady, Kreisberg, Dick, Reynolds, Sheila, Rovira, Hector, Shmulevich, Ilya, Gao, Jianjiong, Jacobsen, Anders, Aksoy, Arman B., Antipin, Yevgeniy, Ciriello, Giovanni, Dresdner, Gideon, Gross, Benjamin, Lee, William, Reva, Boris, Shen, Ronglai, Sinha, Rileen, Sumer, Onur S., Weinhold, Nils, Ladanyi, Marc, Sander, Chris, Benz, Christopher, Carlin, Daniel, Haussler, David, Ng, Sam, Paull, Evan O., Stuart, Joshua, Zhu, Jing, Liu, Yuexin, Zhang, Wei, Taylor, Barry S., Lichtenberg, Tara M., Zmuda, Erik, Barr, Thomas, Black, Aaron D., George, Myra, Hanf, Benjamin, Helsel, Carmen, McAllister, Cynthia, Ramirez, Nilsa C., Tabler, Teresa R., Weaver, Stephanie, Wise, Lisa, Bowen, Jay, Gastier-Foster, Julie M., Jian, Weiguo, Tello, Sebrina, Ittman, Michael, Castro, Patricia, McClenden, Whitney D., Gibbs, Richard, Saller, Charles, Tarvin, Katherine, DiPiero, Jennifer M., Owens, Jennifer, Bollag, Roni, Li, Qiang, Weinberger, Paul, Czerwinski, Christine, Huelsenbeck-Dill, Lori, Iacocca, Mary, Petrelli, Nicholas, Rabeno, Brenda, Swanson, Pat, Shelton, Troy, Curley, Erin, Gardner, Johanna, Mallery, David, Penny, Robert, Van Bang, Nguyen, Thi Hanh, Phan, Kohl, Bernard, Van Le, Xuan, Duc Phu, Bui, Thorp, Richard, Tien, Nguyen Viet, Vinh, Le Quang, Sandusky, George, Burks, Eric, Christ, Kimberly, Gee, Jason, Holway, Antonia, Moinzadeh, Alireza, Sorcini, Andrea, Sullivan, Travis, Garcia-Grossman, Ilana R., Regazzi, Ashley M., Boice, Lori, Rathmell, Wendy Kimryn, Thorne, Leigh, Bastacky, Sheldon, Davies, Benjamin, Dhir, Rajiv, Gingrich, Jeffrey, Hrebinko, Ronald, Maranchie, Jodi, Nelson, Joel, Parwani, Anil, Bshara, Wiam, Gaudioso, Carmelo, Morrison, Carl, Alexopoulou, Vina, Bartlett, John, Engel, Jay, Kodeeswaran, Sugy, Antic, Tatjana, O’Donnell, Peter H., Smith, Norm D., Steinberg, Gary D., Egea, Sophie, Gomez-Fernandez, Carmen, Herbert, Lynn, Jorda, Merce, Soloway, Mark, Beaver, Allison, Carter, Suzie, Kapur, Payal, Lewis, Cheryl, Lotan, Yair, Bondaruk, Jolanta, Czerniak, Bogdan, Skinner, Eila, Aldape, Kenneth, Jensen, Mark A., Kahn, Ari B., Pihl, Todd D., Pot, David A., Srinivasan, Deepak, Wan, Yunhu, Ferguson, Martin L., Zenklusen, Jean Claude, Davidsen, Tanja, Demchok, John A., Mills Shaw, Kenna R., Sheth, Margi, Tarnuzzer, Roy, Wang, Zhining, Yang, Liming, Hutter, Carolyn, Ozenberger, Bradley A., Sofia, Heidi J., and Eley, Greg

Published
2014
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30. Mutational heterogeneity in cancer and the search for new cancer-associated genes

Author

Lawrence, Michael S., Stojanov, Petar, Polak, Paz, Kryukov, Gregory V., Cibulskis, Kristian, Sivachenko, Andrey, Carter, Scott L., Stewart, Chip, Mermel, Craig H., Roberts, Steven A., Kiezun, Adam, Hammerman, Peter S., McKenna, Aaron, Drier, Yotam, Zou, Lihua, Ramos, Alex H., Pugh, Trevor J., Stransky, Nicolas, Helman, Elena, Kim, Jaegil, Sougnez, Carrie, Ambrogio, Lauren, Nickerson, Elizabeth, Shefler, Erica, Cortés, Maria L., Auclair, Daniel, Saksena, Gordon, Voet, Douglas, Noble, Michael, DiCara, Daniel, Lin, Pei, Lichtenstein, Lee, Heiman, David I., Fennell, Timothy, Imielinski, Marcin, Hernandez, Bryan, Hodis, Eran, Baca, Sylvan, Dulak, Austin M., Lohr, Jens, Landau, Dan-Avi, Wu, Catherine J., Melendez-Zajgla, Jorge, Hidalgo-Miranda, Alfredo, Koren, Amnon, McCarroll, Steven A., Mora, Jaume, Lee, Ryan S., Crompton, Brian, Onofrio, Robert, Parkin, Melissa, Winckler, Wendy, Ardlie, Kristin, Gabriel, Stacey B., Roberts, Charles W. M., Biegel, Jaclyn A., Stegmaier, Kimberly, Bass, Adam J., Garraway, Levi A., Meyerson, Matthew, Golub, Todd R., Gordenin, Dmitry A., Sunyaev, Shamil, Lander, Eric S., and Getz, Gad

Published
2013
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31. Comprehensive molecular characterization of clear cell renal cell carcinoma

Author

Creighton, Chad J., Morgan, Margaret, Gunaratne, Preethi H., Wheeler, David A., Gibbs, Richard A., Robertson, Gordon A., Chu, Andy, Beroukhim, Rameen, Cibulskis, Kristian, Signoretti, Sabina, Hsin-Ta Wu, Fabio Vandin, Raphael, Benjamin J., Verhaak, Roel G. W., Tamboli, Pheroze, Torres-Garcia, Wandaliz, Akbani, Rehan, Weinstein, John N., Reuter, Victor, Hsieh, James J., Brannon, Rose A., Ari Hakimi, A., Jacobsen, Anders, Ciriello, Giovanni, Reva, Boris, Ricketts, Christopher J., Linehan, Marston W., Stuart, Joshua M., Rathmell, Kimryn W., Shen, Hui, Laird, Peter W., Muzny, Donna, Davis, Caleb, Xi, Liu, Chang, Kyle, Kakkar, Nipun, Treviño, Lisa R., Benton, Susan, Reid, Jeffrey G., Morton, Donna, Doddapaneni, Harsha, Han, Yi, Lewis, Lora, Dinh, Huyen, Kovar, Christie, Zhu, Yiming, Santibanez, Jireh, Wang, Min, Hale, Walker, Kalra, Divya, Getz, Gad, Lawrence, Michael S., Sougnez, Carrie, Carter, Scott L., Sivachenko, Andrey, Lichtenstein, Lee, Stewart, Chip, Voet, Doug, Fisher, Sheila, Gabriel, Stacey B., Lander, Eric, Schumacher, Steve E., Tabak, Barbara, Saksena, Gordon, Onofrio, Robert C., Cherniack, Andrew D., Gentry, Jeff, Ardlie, Kristin, Meyerson, Matthew, Chun, Hye-Jung E., Mungall, Andrew J., Sipahimalani, Payal, Stoll, Dominik, Ally, Adrian, Balasundaram, Miruna, Butterfield, Yaron S. N., Carlsen, Rebecca, Carter, Candace, Chuah, Eric, Coope, Robin J. N., Dhalla, Noreen, Gorski, Sharon, Guin, Ranabir, Hirst, Carrie, Hirst, Martin, Holt, Robert A., Lebovitz, Chandra, Lee, Darlene, Li, Haiyan I., Mayo, Michael, Moore, Richard A., Pleasance, Erin, Plettner, Patrick, Schein, Jacqueline E., Shafiei, Arash, Slobodan, Jared R., Tam, Angela, Thiessen, Nina, Varhol, Richard J., Wye, Natasja, Zhao, Yongjun, Birol, Inanc, Jones, Steven J. M., Marra, Marco A., Auman, Todd J., Tan, Donghui, Jones, Corbin D., Hoadley, Katherine A., Mieczkowski, Piotr A., Mose, Lisle E., Jefferys, Stuart R., Topal, Michael D., Liquori, Christina, Turman, Yidi J., Shi, Yan, Waring, Scot, Buda, Elizabeth, Walsh, Jesse, Wu, Junyuan, Bodenheimer, Tom, Hoyle, Alan P., Simons, Janae V., Soloway, Mathew G., Balu, Saianand, Parker, Joel S., Hayes, Neil D., Perou, Charles M., Kucherlapati, Raju, Park, Peter, Triche, Timothy, Jr, Weisenberger, Daniel J., Lai, Phillip H., Bootwalla, Moiz S., Maglinte, Dennis T., Mahurkar, Swapna, Berman, Benjamin P., Van Den Berg, David J., Cope, Leslie, Baylin, Stephen B., Noble, Michael S., DiCara, Daniel, Zhang, Hailei, Cho, Juok, Heiman, David I., Gehlenborg, Nils, Mallard, William, Lin, Pei, Frazer, Scott, Stojanov, Petar, Liu, Yingchun, Zhou, Lihua, Kim, Jaegil, Chin, Lynda, Vandin, Fabio, Wu, Hsin-Ta, Benz, Christopher, Yau, Christina, Reynolds, Sheila M., Shmulevich, Ilya, Verhaak, Roel G.W., Vegesna, Rahul, Kim, Hoon, Zhang, Wei, Cogdell, David, Jonasch, Eric, Ding, Zhiyong, Lu, Yiling, Zhang, Nianxiang, Unruh, Anna K., Casasent, Tod D., Wakefield, Chris, Tsavachidou, Dimitra, Mills, Gordon B., Schultz, Nikolaus, Antipin, Yevgeniy, Gao, Jianjiong, Cerami, Ethan, Gross, Benjamin, Aksoy, Arman B., Sinha, Rileen, Weinhold, Nils, Sumer, Onur S., Taylor, Barry S., Shen, Ronglai, Ostrovnaya, Irina, Berger, Michael F., Ladanyi, Marc, Sander, Chris, Fei, Suzanne S., Stout, Andrew, Spellman, Paul T., Rubin, Daniel L., Liu, Tiffany T., Ng, Sam, Paull, Evan O., Carlin, Daniel, Goldstein, Theodore, Waltman, Peter, Ellrott, Kyle, Zhu, Jing, Haussler, David, Xiao, Weimin, Shelton, Candace, Gardner, Johanna, Penny, Robert, Sherman, Mark, Mallery, David, Morris, Scott, Paulauskis, Joseph, Burnett, Ken, Shelton, Troy, Kaelin, William G., Choueiri, Toni, Atkins, Michael B., Curley, Erin, Tickoo, Satish, Thorne, Leigh, Boice, Lori, Huang, Mei, Fisher, Jennifer C., Vocke, Cathy D., Peterson, James, Worrell, Robert, Merino, Maria J., Schmidt, Laura S., Czerniak, Bogdan A., Aldape, Kenneth D., Wood, Christopher G., Boyd, Jeff, Weaver, JoEllen, Iacocca, Mary V., Petrelli, Nicholas, Witkin, Gary, Brown, Jennifer, Czerwinski, Christine, Huelsenbeck-Dill, Lori, Rabeno, Brenda, Myers, Jerome, Morrison, Carl, Bergsten, Julie, Eckman, John, Harr, Jodi, Smith, Christine, Tucker, Kelinda, Zach, Leigh Anne, Bshara, Wiam, Gaudioso, Carmelo, Dhir, Rajiv, Maranchie, Jodi, Nelson, Joel, Parwani, Anil, Potapova, Olga, Fedosenko, Konstantin, Cheville, John C., Thompson, Houston R., Mosquera, Juan M., Rubin, Mark A., Blute, Michael L., Pihl, Todd, Jensen, Mark, Sfeir, Robert, Kahn, Ari, Chu, Anna, Kothiyal, Prachi, Snyder, Eric, Pontius, Joan, Ayala, Brenda, Backus, Mark, Walton, Jessica, Baboud, Julien, Berton, Dominique, Nicholls, Matthew, Srinivasan, Deepak, Raman, Rohini, Girshik, Stanley, Kigonya, Peter, Alonso, Shelley, Sanbhadti, Rashmi, Barletta, Sean, Pot, David, Sheth, Margi, Demchok, John A., Davidsen, Tanja, Wang, Zhining, Yang, Liming, Tarnuzzer, Roy W., Zhang, Jiashan, Eley, Greg, Ferguson, Martin L., Mills Shaw, Kenna R., Guyer, Mark S., Ozenberger, Bradley A., and Sofia, Heidi J.

Published
2013
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32. ProteoLens: a visual analytic tool for multi-scale database-driven biological network data mining

Author

Sivachenko Andrey Y, Huan Tianxiao, Harrison Scott H, and Chen Jake Y

Subjects
Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5
Abstract

Abstract Background New systems biology studies require researchers to understand how interplay among myriads of biomolecular entities is orchestrated in order to achieve high-level cellular and physiological functions. Many software tools have been developed in the past decade to help researchers visually navigate large networks of biomolecular interactions with built-in template-based query capabilities. To further advance researchers' ability to interrogate global physiological states of cells through multi-scale visual network explorations, new visualization software tools still need to be developed to empower the analysis. A robust visual data analysis platform driven by database management systems to perform bi-directional data processing-to-visualizations with declarative querying capabilities is needed. Results We developed ProteoLens as a JAVA-based visual analytic software tool for creating, annotating and exploring multi-scale biological networks. It supports direct database connectivity to either Oracle or PostgreSQL database tables/views, on which SQL statements using both Data Definition Languages (DDL) and Data Manipulation languages (DML) may be specified. The robust query languages embedded directly within the visualization software help users to bring their network data into a visualization context for annotation and exploration. ProteoLens supports graph/network represented data in standard Graph Modeling Language (GML) formats, and this enables interoperation with a wide range of other visual layout tools. The architectural design of ProteoLens enables the de-coupling of complex network data visualization tasks into two distinct phases: 1) creating network data association rules, which are mapping rules between network node IDs or edge IDs and data attributes such as functional annotations, expression levels, scores, synonyms, descriptions etc; 2) applying network data association rules to build the network and perform the visual annotation of graph nodes and edges according to associated data values. We demonstrated the advantages of these new capabilities through three biological network visualization case studies: human disease association network, drug-target interaction network and protein-peptide mapping network. Conclusion The architectural design of ProteoLens makes it suitable for bioinformatics expert data analysts who are experienced with relational database management to perform large-scale integrated network visual explorations. ProteoLens is a promising visual analytic platform that will facilitate knowledge discoveries in future network and systems biology studies.

Published
2008
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33. Comprehensive molecular portraits of human breast tumours

Author

Koboldt, Daniel C., Fulton, Robert S., McLellan, Michael D., Schmidt, Heather, Kalicki-Veizer, Joelle, McMichael, Joshua F., Fulton, Lucinda L., Dooling, David J., Ding, Li, Mardis, Elaine R., Wilson, Richard K., Ally, Adrian, Balasundaram, Miruna, Butterfield, Yaron S. N., Carlsen, Rebecca, Carter, Candace, Chu, Andy, Chuah, Eric, Chun, Hye-Jung E., Coope, Robin J. N., Dhalla, Noreen, Guin, Ranabir, Hirst, Carrie, Hirst, Martin, Holt, Robert A., Lee, Darlene, Li, Haiyan I., Mayo, Michael, Moore, Richard A., Mungall, Andrew J., Pleasance, Erin, Gordon Robertson, A., Schein, Jacqueline E., Shafiei, Arash, Sipahimalani, Payal, Slobodan, Jared R., Stoll, Dominik, Tam, Angela, Thiessen, Nina, Varhol, Richard J., Wye, Natasja, Zeng, Thomas, Zhao, Yongjun, Birol, Inanc, Jones, Steven J. M., Marra, Marco A., Cherniack, Andrew D., Saksena, Gordon, Onofrio, Robert C., Pho, Nam H., Carter, Scott L., Schumacher, Steven E., Tabak, Barbara, Hernandez, Bryan, Gentry, Jeff, Nguyen, Huy, Crenshaw, Andrew, Ardlie, Kristin, Beroukhim, Rameen, Winckler, Wendy, Getz, Gad, Gabriel, Stacey B., Meyerson, Matthew, Chin, Lynda, Park, Peter J., Kucherlapati, Raju, Hoadley, Katherine A., Todd Auman, J., Fan, Cheng, Turman, Yidi J., Shi, Yan, Li, Ling, Topal, Michael D., He, Xiaping, Chao, Hann-Hsiang, Prat, Aleix, Silva, Grace O., Iglesia, Michael D., Zhao, Wei, Usary, Jerry, Berg, Jonathan S., Adams, Michael, Booker, Jessica, Wu, Junyuan, Gulabani, Anisha, Bodenheimer, Tom, Hoyle, Alan P., Simons, Janae V., Soloway, Matthew G., Mose, Lisle E., Jefferys, Stuart R., Balu, Saianand, Parker, Joel S., Neil Hayes, D., Perou, Charles M., Malik, Simeen, Mahurkar, Swapna, Shen, Hui, Weisenberger, Daniel J., Triche, Timothy, Jr, Lai, Phillip H., Bootwalla, Moiz S., Maglinte, Dennis T., Berman, Benjamin P., Van Den Berg, David J., Baylin, Stephen B., Laird, Peter W., Creighton, Chad J., Donehower, Lawrence A., Noble, Michael, Voet, Doug, Gehlenborg, Nils, DiCara, Daniel, Zhang, Juinhua, Zhang, Hailei, Wu, Chang-Jiun, Liu, Spring Yingchun, Lawrence, Michael S., Zou, Lihua, Sivachenko, Andrey, Lin, Pei, Stojanov, Petar, Jing, Rui, Cho, Juok, Sinha, Raktim, Park, Richard W., Nazaire, Marc-Danie, Robinson, Jim, Thorvaldsdottir, Helga, Mesirov, Jill, Reynolds, Sheila, Kreisberg, Richard B., Bernard, Brady, Bressler, Ryan, Erkkila, Timo, Lin, Jake, Thorsson, Vesteinn, Zhang, Wei, Shmulevich, Ilya, Ciriello, Giovanni, Weinhold, Nils, Schultz, Nikolaus, Gao, Jianjiong, Cerami, Ethan, Gross, Benjamin, Jacobsen, Anders, Sinha, Rileen, Arman Aksoy, B., Antipin, Yevgeniy, Reva, Boris, Shen, Ronglai, Taylor, Barry S., Ladanyi, Marc, Sander, Chris, Anur, Pavana, Spellman, Paul T., Lu, Yiling, Liu, Wenbin, Verhaak, Roel R. G., Mills, Gordon B., Akbani, Rehan, Zhang, Nianxiang, Broom, Bradley M., Casasent, Tod D., Wakefield, Chris, Unruh, Anna K., Baggerly, Keith, Coombes, Kevin, Weinstein, John N., Haussler, David, Benz, Christopher C., Stuart, Joshua M., Benz, Stephen C., Zhu, Jingchun, Szeto, Christopher C., Scott, Gary K., Yau, Christina, Paull, Evan O., Carlin, Daniel, Wong, Christopher, Sokolov, Artem, Thusberg, Janita, Mooney, Sean, Ng, Sam, Goldstein, Theodore C., Ellrott, Kyle, Grifford, Mia, Wilks, Christopher, Ma, Singer, Craft, Brian, Yan, Chunhua, Hu, Ying, Meerzaman, Daoud, Gastier-Foster, Julie M., Bowen, Jay, Ramirez, Nilsa C., Black, Aaron D., Pyatt, Robert E., White, Peter, Zmuda, Erik J., Frick, Jessica, Lichtenberg, Tara M., Brookens, Robin, George, Myra M., Gerken, Mark A., Harper, Hollie A., Leraas, Kristen M., Wise, Lisa J., Tabler, Teresa R., McAllister, Cynthia, Barr, Thomas, Hart-Kothari, Melissa, Tarvin, Katie, Saller, Charles, Sandusky, George, Mitchell, Colleen, Iacocca, Mary V., Brown, Jennifer, Rabeno, Brenda, Czerwinski, Christine, Petrelli, Nicholas, Dolzhansky, Oleg, Abramov, Mikhail, Voronina, Olga, Potapova, Olga, Marks, Jeffrey R., Suchorska, Wiktoria M., Murawa, Dawid, Kycler, Witold, Ibbs, Matthew, Korski, Konstanty, Spychała, Arkadiusz, Murawa, Paweł, Brzeziński, Jacek J., Perz, Hanna, Łaźniak, Radosław, Teresiak, Marek, Tatka, Honorata, Leporowska, Ewa, Bogusz-Czerniewicz, Marta, Malicki, Julian, Mackiewicz, Andrzej, Wiznerowicz, Maciej, Van Le, Xuan, Kohl, Bernard, Viet Tien, Nguyen, Thorp, Richard, Van Bang, Nguyen, Sussman, Howard, Duc Phu, Bui, Hajek, Richard, Phi Hung, Nguyen, Viet The Phuong, Tran, Quyet Thang, Huynh, Zaki Khan, Khurram, Penny, Robert, Mallery, David, Curley, Erin, Shelton, Candace, Yena, Peggy, Ingle, James N., Couch, Fergus J., Lingle, Wilma L., King, Tari A., Maria Gonzalez-Angulo, Ana, Dyer, Mary D., Liu, Shuying, Meng, Xiaolong, Patangan, Modesto, Waldman, Frederic, Stöppler, Hubert, Kimryn Rathmell, W., Thorne, Leigh, Huang, Mei, Boice, Lori, Hill, Ashley, Morrison, Carl, Gaudioso, Carmelo, Bshara, Wiam, Daily, Kelly, Egea, Sophie C., Pegram, Mark D., Gomez-Fernandez, Carmen, Dhir, Rajiv, Bhargava, Rohit, Brufsky, Adam, Shriver, Craig D., Hooke, Jeffrey A., Leigh Campbell, Jamie, Mural, Richard J., Hu, Hai, Somiari, Stella, Larson, Caroline, Deyarmin, Brenda, Kvecher, Leonid, Kovatich, Albert J., Ellis, Matthew J., Stricker, Thomas, White, Kevin, Olopade, Olufunmilayo, Luo, Chunqing, Chen, Yaqin, Bose, Ron, Chang, Li-Wei, Beck, Andrew H., Pihl, Todd, Jensen, Mark, Sfeir, Robert, Kahn, Ari, Chu, Anna, Kothiyal, Prachi, Wang, Zhining, Snyder, Eric, Pontius, Joan, Ayala, Brenda, Backus, Mark, Walton, Jessica, Baboud, Julien, Berton, Dominique, Nicholls, Matthew, Srinivasan, Deepak, Raman, Rohini, Girshik, Stanley, Kigonya, Peter, Alonso, Shelley, Sanbhadti, Rashmi, Barletta, Sean, Pot, David, Sheth, Margi, Demchok, John A., Mills Shaw, Kenna R., Yang, Liming, Eley, Greg, Ferguson, Martin L., Tarnuzzer, Roy W., Zhang, Jiashan, Dillon, Laura A. L., Buetow, Kenneth, Fielding, Peter, Ozenberger, Bradley A., Guyer, Mark S., Sofia, Heidi J., and Palchik, Jacqueline D.

Published
2012
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34. Comprehensive molecular characterization of human colon and rectal cancer

Author

Muzny, Donna M., Bainbridge, Matthew N., Chang, Kyle, Dinh, Huyen H., Drummond, Jennifer A., Fowler, Gerald, Kovar, Christie L., Lewis, Lora R., Morgan, Margaret B., Newsham, Irene F., Reid, Jeffrey G., Santibanez, Jireh, Shinbrot, Eve, Trevino, Lisa R., Wu, Yuan-Qing, Wang, Min, Gunaratne, Preethi, Donehower, Lawrence A., Creighton, Chad J., Wheeler, David A., Gibbs, Richard A., Lawrence, Michael S., Voet, Douglas, Jing, Rui, Cibulskis, Kristian, Sivachenko, Andrey, Stojanov, Petar, McKenna, Aaron, Lander, Eric S., Gabriel, Stacey, Getz, Gad, Ding, Li, Fulton, Robert S., Koboldt, Daniel C., Wylie, Todd, Walker, Jason, Dooling, David J., Fulton, Lucinda, Delehaunty, Kim D., Fronick, Catrina C., Demeter, Ryan, Mardis, Elaine R., Wilson, Richard K., Chu, Andy, Chun, Hye-Jung E., Mungall, Andrew J., Pleasance, Erin, Robertson, Gordon A., Stoll, Dominik, Balasundaram, Miruna, Birol, Inanc, Butterfield, Yaron S. N., Chuah, Eric, Coope, Robin J. N., Dhalla, Noreen, Guin, Ranabir, Hirst, Carrie, Hirst, Martin, Holt, Robert A., Lee, Darlene, Li, Haiyan I., Mayo, Michael, Moore, Richard A., Schein, Jacqueline E., Slobodan, Jared R., Tam, Angela, Thiessen, Nina, Varhol, Richard, Zeng, Thomas, Zhao, Yongjun, Jones, Steven J. M., Marra, Marco A., Bass, Adam J., Ramos, Alex H., Saksena, Gordon, Cherniack, Andrew D., Schumacher, Stephen E., Tabak, Barbara, Carter, Scott L., Pho, Nam H., Nguyen, Huy, Onofrio, Robert C., Crenshaw, Andrew, Ardlie, Kristin, Beroukhim, Rameen, Winckler, Wendy, Meyerson, Matthew, Protopopov, Alexei, Zhang, Juinhua, Hadjipanayis, Angela, Lee, Eunjung, Xi, Ruibin, Yang, Lixing, Ren, Xiaojia, Zhang, Hailei, Sathiamoorthy, Narayanan, Shukla, Sachet, Chen, Peng-Chieh, Haseley, Psalm, Xiao, Yonghong, Lee, Semin, Seidman, Jonathan, Chin, Lynda, Park, Peter J., Kucherlapati, Raju, Auman, Todd J., Hoadley, Katherine A., Du, Ying, Wilkerson, Matthew D., Shi, Yan, Liquori, Christina, Meng, Shaowu, Li, Ling, Turman, Yidi J., Topal, Michael D., Tan, Donghui, Waring, Scot, Buda, Elizabeth, Walsh, Jesse, Jones, Corbin D., Mieczkowski, Piotr A., Singh, Darshan, Wu, Junyuan, Gulabani, Anisha, Dolina, Peter, Bodenheimer, Tom, Hoyle, Alan P., Simons, Janae V., Soloway, Matthew, Mose, Lisle E., Jefferys, Stuart R., Balu, Saianand, O’Connor, Brian D., Prins, Jan F., Chiang, Derek Y., Hayes, Neil D., Perou, Charles M., Hinoue, Toshinori, Weisenberger, Daniel J., Maglinte, Dennis T., Pan, Fei, Berman, Benjamin P., Van Den Berg, David J., Shen, Hui, Triche, Timothy, Jr, Baylin, Stephen B., Laird, Peter W., Noble, Michael, Voet, Doug, Gehlenborg, Nils, DiCara, Daniel, Wu, Chang-Jiun, Yingchun Liu, Spring, Zhou, Lihua, Lin, Pei, Park, Richard W., Nazaire, Marc-Danie, Robinson, Jim, Thorvaldsdottir, Helga, Mesirov, Jill, Thorsson, Vesteinn, Reynolds, Sheila M., Bernard, Brady, Kreisberg, Richard, Lin, Jake, Iype, Lisa, Bressler, Ryan, Erkkilä, Timo, Gundapuneni, Madhumati, Liu, Yuexin, Norberg, Adam, Robinson, Tom, Yang, Da, Zhang, Wei, Shmulevich, Ilya, de Ronde, Jorma J., Schultz, Nikolaus, Cerami, Ethan, Ciriello, Giovanni, Goldberg, Arthur P., Gross, Benjamin, Jacobsen, Anders, Gao, Jianjiong, Kaczkowski, Bogumil, Sinha, Rileen, Aksoy, Arman B., Antipin, Yevgeniy, Reva, Boris, Shen, Ronglai, Taylor, Barry S., Chan, Timothy A., Ladanyi, Marc, Sander, Chris, Akbani, Rehan, Zhang, Nianxiang, Broom, Bradley M., Casasent, Tod, Unruh, Anna, Wakefield, Chris, Hamilton, Stanley R., Cason, Craig R., Baggerly, Keith A., Weinstein, John N., Haussler, David, Benz, Christopher C., Stuart, Joshua M., Benz, Stephen C., Sanborn, Zachary J., Vaske, Charles J., Zhu, Jingchun, Szeto, Christopher, Scott, Gary K., Yau, Christina, Ng, Sam, Goldstein, Ted, Ellrott, Kyle, Collisson, Eric, Cozen, Aaron E., Zerbino, Daniel, Wilks, Christopher, Craft, Brian, Spellman, Paul, Penny, Robert, Shelton, Troy, Hatfield, Martha, Morris, Scott, Yena, Peggy, Shelton, Candace, Sherman, Mark, Paulauskis, Joseph, Gastier-Foster, Julie M., Bowen, Jay, Ramirez, Nilsa C., Black, Aaron, Pyatt, Robert, Wise, Lisa, White, Peter, Bertagnolli, Monica, Brown, Jen, Chu, Gerald C., Czerwinski, Christine, Denstman, Fred, Dhir, Rajiv, Dörner, Arnulf, Fuchs, Charles S., Guillem, Jose G., Iacocca, Mary, Juhl, Hartmut, Kaufman, Andrew, Kohl, Bernard, III, Van Le, Xuan, Mariano, Maria C., Medina, Elizabeth N., Meyers, Michael, Nash, Garrett M., Paty, Phillip B., Petrelli, Nicholas, Rabeno, Brenda, Richards, William G., Solit, David, Swanson, Pat, Temple, Larissa, Tepper, Joel E., Thorp, Richard, Vakiani, Efsevia, Weiser, Martin R., Willis, Joseph E., Witkin, Gary, Zeng, Zhaoshi, Zinner, Michael J., Zornig, Carsten, Jensen, Mark A., Sfeir, Robert, Kahn, Ari B., Chu, Anna L., Kothiyal, Prachi, Wang, Zhining, Snyder, Eric E., Pontius, Joan, Pihl, Todd D., Ayala, Brenda, Backus, Mark, Walton, Jessica, Whitmore, Jon, Baboud, Julien, Berton, Dominique L., Nicholls, Matthew C., Srinivasan, Deepak, Raman, Rohini, Girshik, Stanley, Kigonya, Peter A., Alonso, Shelley, Sanbhadti, Rashmi N., Barletta, Sean P., Greene, John M., Pot, David A., Mills Shaw, Kenna R., Dillon, Laura A. L., Buetow, Ken, Davidsen, Tanja, Demchok, John A., Eley, Greg, Ferguson, Martin, Fielding, Peter, Schaefer, Carl, Sheth, Margi, Yang, Liming, Guyer, Mark S., Ozenberger, Bradley A., Palchik, Jacqueline D., Peterson, Jane, Sofia, Heidi J., and Thomson, Elizabeth

Published
2012
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36. Melanoma genome sequencing reveals frequent PREX2 mutations

Author

Berger, Michael F., Hodis, Eran, Heffernan, Timothy P., Deribe, Yonathan Lissanu, Lawrence, Michael S., Protopopov, Alexei, Ivanova, Elena, Watson, Ian R., Nickerson, Elizabeth, Ghosh, Papia, Zhang, Hailei, Zeid, Rhamy, Ren, Xiaojia, Cibulskis, Kristian, Sivachenko, Andrey Y., Wagle, Nikhil, Sucker, Antje, Sougnez, Carrie, Onofrio, Robert, Ambrogio, Lauren, Auclair, Daniel, Fennell, Timothy, Carter, Scott L., Drier, Yotam, Stojanov, Petar, Singer, Meredith A., Voet, Douglas, Jing, Rui, Saksena, Gordon, Barretina, Jordi, Ramos, Alex H., Pugh, Trevor J., Stransky, Nicolas, Parkin, Melissa, Winckler, Wendy, Mahan, Scott, Ardlie, Kristin, Baldwin, Jennifer, Wargo, Jennifer, Schadendorf, Dirk, Meyerson, Matthew, Gabriel, Stacey B., Golub, Todd R., Wagner, Stephan N., Lander, Eric S., Getz, Gad, Chin, Lynda, and Garraway, Levi A.

Published
2012
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38. SF3B1 and Other Novel Cancer Genes in Chronic Lymphocytic Leukemia

Author

Wang, Lili, Lawrence, Michael S., Wan, Youzhong, Stojanov, Petar, Sougnez, Carrie, Stevenson, Kristen, Werner, Lillian, Sivachenko, Andrey, DeLuca, David S., Zhang, Li, Zhang, Wandi, Vartanov, Alexander R., Fernandes, Stacey M., Goldstein, Natalie R., Folco, Eric G., Cibulskis, Kristian, Tesar, Bethany, Sievers, Quinlan L., Shefler, Erica, Gabriel, Stacey, Hacohen, Nir, Reed, Robin, Meyerson, Matthew, Golub, Todd R., Lander, Eric S., Neuberg, Donna, Brown, Jennifer R., Getz, Gad, and Wu, Catherine J.

Published
2011

39. Initial genome sequencing and analysis of multiple myeloma

Author

Chapman, Michael A., Lawrence, Michael S., Keats, Jonathan J., Cibulskis, Kristian, Sougnez, Carrie, Schinzel, Anna C., Harview, Christina L., Brunet, Jean-Philippe, Ahmann, Gregory J., Adli, Mazhar, Anderson, Kenneth C., Ardlie, Kristin G., Auclair, Daniel, Baker, Angela, Bergsagel, Leif P., Bernstein, Bradley E., Drier, Yotam, Fonseca, Rafael, Gabriel, Stacey B., Hofmeister, Craig C., Jagannath, Sundar, Jakubowiak, Andrzej J., Krishnan, Amrita, Levy, Joan, Liefeld, Ted, Lonial, Sagar, Mahan, Scott, Mfuko, Bunmi, Monti, Stefano, Perkins, Louise M., Onofrio, Robb, Pugh, Trevor J., Rajkumar, Vincent S., Ramos, Alex H., Siegel, David S., Sivachenko, Andrey, Stewart, Keith A., Trudel, Suzanne, Vij, Ravi, Voet, Douglas, Winckler, Wendy, Zimmerman, Todd, Carpten, John, Trent, Jeff, Hahn, William C., Garraway, Levi A., Meyerson, Matthew, Lander, Eric S., Getz, Gad, and Golub, Todd R.

Published
2011
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40. The genomic complexity of primary human prostate cancer

Author

Berger, Michael F., Lawrence, Michael S., Demichelis, Francesca, Drier, Yotam, Cibulskis, Kristian, Sivachenko, Andrey Y., Sboner, Andrea, Esgueva, Raquel, Pflueger, Dorothee, Sougnez, Carrie, Onofrio, Robert, Carter, Scott L., Park, Kyung, Habegger, Lukas, Ambrogio, Lauren, Fennell, Timothy, Parkin, Melissa, Saksena, Gordon, Voet, Douglas, Ramos, Alex H., Pugh, Trevor J., Wilkinson, Jane, Fisher, Sheila, Winckler, Wendy, Mahan, Scott, Ardlie, Kristin, Baldwin, Jennifer, Simons, Jonathan W., Kitabayashi, Naoki, MacDonald, Theresa Y., Kantoff, Philip W., Chin, Lynda, Gabriel, Stacey B., Gerstein, Mark B., Golub, Todd R., Meyerson, Matthew, Tewari, Ashutosh, Lander, Eric S., Getz, Gad, Rubin, Mark A., and Garraway, Levi A.

Published
2011
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42. Whole-exome sequencing and clinical interpretation of FFPE tumor samples to guide precision cancer medicine

Author

Allen, Eliezer M. Van, Wagle, Nikhil, Stojanov, Petar, Perrin, Danielle L., Cibulskis, Kristian, Marlow, Sara, Jane-Valbuena, Judit, Friedrich, Dennis C., Kryukov, Gregory, Carter, Scott L., McKenna, Aaron, Sivachenko, Andrey, Rosenberg, Mara, Kiezun, Adam, Voet, Douglas, Lawrence, Michael, Lichtenstein, Lee T., Gentry, Jeff G., Huang, Franklin W., Fostel, Jennifer, Farlow, Deborah, Barbie, David, Gandhi, Leena, Lander, Eric S., Gray, Stacy W., Joffe, Steven, Janne, Pasi, Garber, Judy, MacConaill, Laura, Lindeman, Neal, Rollins, Barrett, Kantoff, Philip, Fisher, Sheila A., Gabriel, Stacey, Getz, Gad, and Garraway, Levi A.

Subjects
HEK293 Cells, Massachusetts, Neoplasms, Databases, Genetic, Mutagenesis, Site-Directed, Computational Biology, Humans, Exome, Sequence Analysis, DNA, Precision Medicine, Article, Algorithms, Statistics, Nonparametric
Abstract

Translating whole-exome sequencing (WES) for prospective clinical use may have an impact on the care of patients with cancer; however, multiple innovations are necessary for clinical implementation. These include rapid and robust WES of DNA derived from formalin-fixed, paraffin-embedded tumor tissue, analytical output similar to data from frozen samples and clinical interpretation of WES data for prospective use. Here, we describe a prospective clinical WES platform for archival formalin-fixed, paraffin-embedded tumor samples. The platform employs computational methods for effective clinical analysis and interpretation of WES data. When applied retrospectively to 511 exomes, the interpretative framework revealed a 'long tail' of somatic alterations in clinically important genes. Prospective application of this approach identified clinically relevant alterations in 15 out of 16 patients. In one patient, previously undetected findings guided clinical trial enrollment, leading to an objective clinical response. Overall, this methodology may inform the widespread implementation of precision cancer medicine.

Published
2014

43. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Author

McKenna, Aaron, Hanna, Matthew, Banks, Eric, Sivachenko, Andrey, Cibulskis, Kristian, Kernytsky, Andrew, Garimella, Kiran, Altshuler, David, Gabriel, Stacey, Daly, Mark, and DePristo, Mark A.

Subjects
Genetic research -- Technology application, Human genome -- Research, Nucleotide sequencing -- Analysis, Single nucleotide polymorphisms -- Analysis, Technology application, Health
Published
2010

44. Integrative analysis of the melanoma transcriptome

Author

Berger, Michael F., Levin, Joshua Z., Vijayendran, Krishna, Sivachenko, Andrey, Adiconis, Xian, Maguire, Jared, Johnson, Laura A., Robinson, James, Verhaak, Roel G., Sougnez, Carrie, Onofrio, Robert C, Ziaugra, Liuda, Cibulskis, Kristian, Laine, Elisabeth, Barretina, Jordi, Winckler, Wendy, Fisher, David E., Getz, Gad, Meyerson,Matthew, Jaffe, David B., Gabriel, Stacey B., Lander, Eric S., Dummer, Reinhard, Gnirke, Andreas, Nusbaum, Chad, and Garraway, Levi A.

Subjects
Melanoma -- Genetic aspects, Cancer cells -- Research, Chromosome abnormalities -- Research, Gene mutations -- Analysis, Genetic transcription -- Research, Health
Published
2010

45. A glimpse into the somatic mutation landscape of melanoma through exome sequencing of 121 tumor-normal pairs

Author

Hodis, Eran, Watson, Ian, Theurillat, Jean-Philippe, Zou, Lihua, Place, Chelsea, Nickerson, Elizabeth, Auclair, Daniel, Cibulskis, Kristian, Sivachenko, Andrey, Kryukov, Gregory, Stransky, Nicolas, Ramos, Alex H., Voet, Douglas, Lawrence, Michael S., Stojanov, Petar, Saksena, Gordon, McKenna, Aaron, Carter, Scott L., Pugh, Trevor, Noble, Michael, Lin, Pei, Lichtenstein, Lee, Zupko, Robert, Sougnez, Carrie, Guiducci, Candace, Onofrio, Robert C., Ambrogio, Lauren, Fennell, Timothy, Chong, Kelly, Winckler, Wendy, Ardlie, Kristin, Lander, Eric S., Golub, Todd, Meyerson, Matthew, Gabriel, Stacey B., Getz, Gad, Wagner, Stefan, Schadendorf, Dirk, Hoon, Dave S. B., Chin, Lynda, and Garraway, Levi A.

Subjects
Medizin
Published
2012

46. Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusion

Author

Lawrence, Michael S, Bass, Adam J, Ramos, Alex H, Hoshida, Yujin, Sivachenko, Andrey, Pugh, Trevor, Drier, Yotam, Saksena, Gordon, Kaelin, William G, Chiang, Derek Y, Solit, David B, Sougnez, Carrie, Brace, Lear E, Stransky, Nicolas, Voet, Douglas, DePinho, Ronald A, Shao, Wenlin, Warmuth, Markus, Boutin, Adam T, Cibulskis, Kristian, Hahn, William C, Signoretti, Sabina, Spardy, Nicole, Parkin, Melissa, Chin, Lynda, Mishina, Yuji, Jing, Rui, Barretina, Jordi, Ogino, Shuji, Vakiani, Evi, Jimenez, Jose, and Verhaak, Roel G

Abstract

Prior studies have identified recurrent oncogenic mutations in colorectal adenocarcinoma1 and have surveyed exons of protein-coding genes for mutations in 11 affected individuals2,3. Here we report whole-genome sequencing from nine individuals with colorectal cancer, including primary colorectal tumors and matched adjacent non-tumor tissues, at an average of 30.7× and 31.9× coverage, respectively. We identify an average of 75 somatic rearrangements per tumor, including complex networks of translocations between pairs of chromosomes. Eleven rearrangements encode predicted in-frame fusion proteins, including a fusion of VTI1A and TCF7L2 found in 3 out of 97 colorectal cancers. Although TCF7L2 encodes TCF4, which cooperates with β-catenin4 in colorectal carcinogenesis5,6, the fusion lacks the TCF4 β-catenin–binding domain. We found a colorectal carcinoma cell line harboring the fusion gene to be dependent on VTI1A-TCF7L2 for anchorage-independent growth using RNA interference-mediated knockdown. This study shows previously unidentified levels of genomic rearrangements in colorectal carcinoma that can lead to essential gene fusions and other oncogenic events.

Published
2011
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47. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Author

Massachusetts Institute of Technology. Department of Biology, Altshuler, David, McKenna, Aaron, Hanna, Matthew, Sivachenko, Andrey, Cibulskis, Kristian, Kernytsky, Andrew, Garimella, Kiran, Gabriel, Stacey B., Daly, Mark J., DePristo, Mark A., Banks, Eric, 1976, Massachusetts Institute of Technology. Department of Biology, Altshuler, David, McKenna, Aaron, Hanna, Matthew, Sivachenko, Andrey, Cibulskis, Kristian, Kernytsky, Andrew, Garimella, Kiran, Gabriel, Stacey B., Daly, Mark J., DePristo, Mark A., and Banks, Eric, 1976

Abstract

Next-generation DNA sequencing (NGS) projects, such as the 1000 Genomes Project, are already revolutionizing our understanding of genetic variation among individuals. However, the massive data sets generated by NGS—the 1000 Genome pilot alone includes nearly five terabases—make writing feature-rich, efficient, and robust analysis tools difficult for even computationally sophisticated individuals. Indeed, many professionals are limited in the scope and the ease with which they can answer scientific questions by the complexity of accessing and manipulating the data produced by these machines. Here, we discuss our Genome Analysis Toolkit (GATK), a structured programming framework designed to ease the development of efficient and robust analysis tools for next-generation DNA sequencers using the functional programming philosophy of MapReduce. The GATK provides a small but rich set of data access patterns that encompass the majority of analysis tool needs. Separating specific analysis calculations from common data management infrastructure enables us to optimize the GATK framework for correctness, stability, and CPU and memory efficiency and to enable distributed and shared memory parallelization. We highlight the capabilities of the GATK by describing the implementation and application of robust, scale-tolerant tools like coverage calculators and single nucleotide polymorphism (SNP) calling. We conclude that the GATK programming framework enables developers and analysts to quickly and easily write efficient and robust NGS tools, many of which have already been incorporated into large-scale sequencing projects like the 1000 Genomes Project and The Cancer Genome Atlas., National Human Genome Research Institute (U.S.) (Large Scale Sequencing and Analysis of Genomes grant (54 HG003067)), National Human Genome Research Institute (U.S.) (Joint SNP and CNV calling in 1000 Genomes sequence data grant (U01 HG005208))

Published
2014

48. SF3B1 and Other Novel Cancer Genes in Chronic Lymphocytic Leukemia

Author

Massachusetts Institute of Technology. Department of Biology, Lander, Eric S., Wang, Lili, Lawrence, Michael S., Wan, Youzhong, Stojanov, Petar, Sougnez, Carrie, Stevenson, Kristen, Werner, Lillian, Sivachenko, Andrey, DeLuca, David S., Zhang, Li, Zhang, Wandi, Vartanov, Alexander R., Fernandes, Stacey M., Goldstein, Natalie R., Folco, Eric G., Cibulskis, Kristian, Tesar, Bethany, Sievers, Quinlan L., Shefler, Erica, Gabriel, Stacey B., Hacohen, Nir, Reed, Robin, Meyerson, Matthew L., Golub, Todd R., Neuberg, Donna S., Brown, Jennifer R., Getz, Gad, Wu, Catherine J., Lander, Eric Steven, Massachusetts Institute of Technology. Department of Biology, Lander, Eric S., Wang, Lili, Lawrence, Michael S., Wan, Youzhong, Stojanov, Petar, Sougnez, Carrie, Stevenson, Kristen, Werner, Lillian, Sivachenko, Andrey, DeLuca, David S., Zhang, Li, Zhang, Wandi, Vartanov, Alexander R., Fernandes, Stacey M., Goldstein, Natalie R., Folco, Eric G., Cibulskis, Kristian, Tesar, Bethany, Sievers, Quinlan L., Shefler, Erica, Gabriel, Stacey B., Hacohen, Nir, Reed, Robin, Meyerson, Matthew L., Golub, Todd R., Neuberg, Donna S., Brown, Jennifer R., Getz, Gad, Wu, Catherine J., and Lander, Eric Steven

Abstract

Background: The somatic genetic basis of chronic lymphocytic leukemia, a common and clinically heterogeneous leukemia occurring in adults, remains poorly understood. Methods: We obtained DNA samples from leukemia cells in 91 patients with chronic lymphocytic leukemia and performed massively parallel sequencing of 88 whole exomes and whole genomes, together with sequencing of matched germline DNA, to characterize the spectrum of somatic mutations in this disease. Results: Nine genes that are mutated at significant frequencies were identified, including four with established roles in chronic lymphocytic leukemia (TP53 in 15% of patients, ATM in 9%, MYD88 in 10%, and NOTCH1 in 4%) and five with unestablished roles (SF3B1, ZMYM3, MAPK1, FBXW7, and DDX3X). SF3B1, which functions at the catalytic core of the spliceosome, was the second most frequently mutated gene (with mutations occurring in 15% of patients). SF3B1 mutations occurred primarily in tumors with deletions in chromosome 11q, which are associated with a poor prognosis in patients with chronic lymphocytic leukemia. We further discovered that tumor samples with mutations in SF3B1 had alterations in pre–messenger RNA (mRNA) splicing. Conclusions: Our study defines the landscape of somatic mutations in chronic lymphocytic leukemia and highlights pre-mRNA splicing as a critical cellular process contributing to chronic lymphocytic leukemia., National Institutes of Health (U.S.). National Human Genome Research Institute (Grant U54HG003067), National Cancer Institute (U.S.) (Grant 5R21CA115043-2)

Published
2014

49. Comparative analysis of RNA sequencing methods for degraded or low-input samples

Author

Massachusetts Institute of Technology. Department of Biology, Regev, Aviv, Adiconis, Xian, Borges-Rivera, Diego, Satija, Rahul, DeLuca, David S., Busby, Michele A., Berlin, Aaron M., Sivachenko, Andrey, Thompson, Dawn Anne, Wysoker, Alec, Fennell, Timothy, Gnirke, Andreas, Pochet, Nathalie, Levin, Joshua Z., Massachusetts Institute of Technology. Department of Biology, Regev, Aviv, Adiconis, Xian, Borges-Rivera, Diego, Satija, Rahul, DeLuca, David S., Busby, Michele A., Berlin, Aaron M., Sivachenko, Andrey, Thompson, Dawn Anne, Wysoker, Alec, Fennell, Timothy, Gnirke, Andreas, Pochet, Nathalie, and Levin, Joshua Z.

Abstract

available in PMC 2014 January 01, RNA-seq is an effective method for studying the transcriptome, but it can be difficult to apply to scarce or degraded RNA from fixed clinical samples, rare cell populations or cadavers. Recent studies have proposed several methods for RNA-seq of low-quality and/or low-quantity samples, but the relative merits of these methods have not been systematically analyzed. Here we compare five such methods using metrics relevant to transcriptome annotation, transcript discovery and gene expression. Using a single human RNA sample, we constructed and sequenced ten libraries with these methods and compared them against two control libraries. We found that the RNase H method performed best for chemically fragmented, low-quality RNA, and we confirmed this through analysis of actual degraded samples. RNase H can even effectively replace oligo(dT)-based methods for standard RNA-seq. SMART and NuGEN had distinct strengths for measuring low-quantity RNA. Our analysis allows biologists to select the most suitable methods and provides a benchmark for future method development., National Institutes of Health (U.S.) (Pioneer Award DP1-OD003958-01), National Human Genome Research Institute (U.S.) (NHGRI) 1P01HG005062-01), National Human Genome Research Institute (U.S.) (NHGRI Center of Excellence in Genome Science Award 1P50HG006193-01), Howard Hughes Medical Institute (Investigator), Merkin Family Foundation for Stem Cell Research, Broad Institute of MIT and Harvard (Klarman Cell Observatory), National Human Genome Research Institute (U.S.) (NHGRI grant HG03067), Fonds voor Wetenschappelijk Onderzoek--Vlaanderen

Published
2014

50. A Landscape of Driver Mutations in Melanoma

Author

Massachusetts Institute of Technology. Department of Biology, Whitehead Institute for Biomedical Research, Lander, Eric S., Hodis, Eran, Watson, Ian R., Kryukov, Gregory V., Arold, Stefan T., Imielinski, Marcin, Theurillat, Jean-Philippe, Nickerson, Elizabeth, Auclair, Daniel, Li, Liren, Place, Chelsea, DiCara, Daniel, Ramos, Alex H., Lawrence, Michael S., Cibulskis, Kristian, Sivachenko, Andrey, Voet, Douglas, Saksena, Gordon, Stransky, Nicholas, Onofrio, Robert, Lander, Eric Steven, Massachusetts Institute of Technology. Department of Biology, Whitehead Institute for Biomedical Research, Lander, Eric S., Hodis, Eran, Watson, Ian R., Kryukov, Gregory V., Arold, Stefan T., Imielinski, Marcin, Theurillat, Jean-Philippe, Nickerson, Elizabeth, Auclair, Daniel, Li, Liren, Place, Chelsea, DiCara, Daniel, Ramos, Alex H., Lawrence, Michael S., Cibulskis, Kristian, Sivachenko, Andrey, Voet, Douglas, Saksena, Gordon, Stransky, Nicholas, Onofrio, Robert, and Lander, Eric Steven

Abstract

Despite recent insights into melanoma genetics, systematic surveys for driver mutations are challenged by an abundance of passenger mutations caused by carcinogenic UV light exposure. We developed a permutation-based framework to address this challenge, employing mutation data from intronic sequences to control for passenger mutational load on a per gene basis. Analysis of large-scale melanoma exome data by this approach discovered six novel melanoma genes (PPP6C, RAC1, SNX31, TACC1, STK19, and ARID2), three of which—RAC1, PPP6C, and STK19—harbored recurrent and potentially targetable mutations. Integration with chromosomal copy number data contextualized the landscape of driver mutations, providing oncogenic insights in BRAF- and NRAS-driven melanoma as well as those without known NRAS/BRAF mutations. The landscape also clarified a mutational basis for RB and p53 pathway deregulation in this malignancy. Finally, the spectrum of driver mutations provided unequivocal genomic evidence for a direct mutagenic role of UV light in melanoma pathogenesis., National Human Genome Research Institute (U.S.) (Large Scale Sequencing Program Grant U54 HG003067), Melanoma Research Alliance, National Cancer Institute (U.S.) (Support Grant CA-16672)

Published
2014

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