411 results on '"Carmi, Shai"'
Search Results
2. Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
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Levi, Hagai, Carmi, Shai, Rosset, Saharon, Yerushalmi, Rinat, Zick, Aviad, Yablonski-Peretz, Tamar, Consortium, The BCAC, Wang, Qin, Bolla, Manjeet K, Dennis, Joe, Michailidou, Kyriaki, Lush, Michael, Ahearn, Thomas, Andrulis, Irene L, Anton-Culver, Hoda, Antoniou, Antonis C, Arndt, Volker, Augustinsson, Annelie, Auvinen, Päivi, Freeman, Laura Beane, Beckmann, Matthias, Behrens, Sabine, Bermisheva, Marina, Bodelon, Clara, Bogdanova, Natalia V, Bojesen, Stig E, Brenner, Hermann, Byers, Helen, Camp, Nicola, Castelao, Jose, Chang-Claude, Jenny, Chirlaque, María-Dolores, Chung, Wendy, Clarke, Christine, Collaborators, NBCS, Collee, Margriet J, Colonna, Sarah, Consortium, CTS, Couch, Fergus, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary, Devilee, Peter, Dork, Thilo, Dossus, Laure, Eccles, Diana M, Eliassen, A Heather, Eriksson, Mikael, Evans, Gareth, Fasching, Peter, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Garcia-Saenz, Jose Angel, Genkinger, Jeanine, Giles, Graham G, Goldberg, Mark, Guénel, Pascal, Hall, Per, Hamann, Ute, He, Wei, Hillemanns, Peter, Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John, Investigators, ABCTB, Jakovchevska, Simona, Jakubowska, Anna, Jernström, Helena, John, Esther, Johnson, Nichola, Jones, Michael, Vijai, Joseph, Kaaks, Rudolf, Khusnutdinova, Elza, Kitahara, Cari, Koutros, Stella, Kristensen, Vessela, Kurian, Allison W, Lacey, James, Lambrechts, Diether, Le Marchand, Loic, Lejbkowicz, Flavio, Lindblom, Annika, Loibl, Sibylle, Lori, Adriana, Lubinski, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Mavroudis, Dimitrios, Menon, Usha, Mulligan, AnnaMarie, Murphy, Rachel, Nevelsteen, Ines, Newman, William G, and Obi, Nadia
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Biological Sciences ,Biomedical and Clinical Sciences ,Genetics ,Oncology and Carcinogenesis ,Breast Cancer ,Prevention ,Cancer ,Humans ,Female ,Breast Neoplasms ,Genome-Wide Association Study ,Jews ,Israel ,Genetic Predisposition to Disease ,Risk Factors ,Multifactorial Inheritance ,Transcription Factors ,Genomics ,Polymorphism ,Genetic ,BCAC Consortium ,NBCS Collaborators ,CTS Consortium ,ABCTB Investigators ,Polymorphism ,Genetic ,Medical and Health Sciences ,Genetics & Heredity ,Clinical sciences - Abstract
BackgroundPolygenic risk score (PRS), calculated based on genome-wide association studies (GWASs), can improve breast cancer (BC) risk assessment. To date, most BC GWASs have been performed in individuals of European (EUR) ancestry, and the generalisation of EUR-based PRS to other populations is a major challenge. In this study, we examined the performance of EUR-based BC PRS models in Ashkenazi Jewish (AJ) women.MethodsWe generated PRSs based on data on EUR women from the Breast Cancer Association Consortium (BCAC). We tested the performance of the PRSs in a cohort of 2161 AJ women from Israel (1437 cases and 724 controls) from BCAC (BCAC cohort from Israel (BCAC-IL)). In addition, we tested the performance of these EUR-based BC PRSs, as well as the established 313-SNP EUR BC PRS, in an independent cohort of 181 AJ women from Hadassah Medical Center (HMC) in Israel.ResultsIn the BCAC-IL cohort, the highest OR per 1 SD was 1.56 (±0.09). The OR for AJ women at the top 10% of the PRS distribution compared with the middle quintile was 2.10 (±0.24). In the HMC cohort, the OR per 1 SD of the EUR-based PRS that performed best in the BCAC-IL cohort was 1.58±0.27. The OR per 1 SD of the commonly used 313-SNP BC PRS was 1.64 (±0.28).ConclusionsExtant EUR GWAS data can be used for generating PRSs that identify AJ women with markedly elevated risk of BC and therefore hold promise for improving BC risk assessment in AJ women.
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- 2023
3. Genome wide association study and genomic risk prediction of age related macular degeneration in Israel
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Grunin, Michelle, Triffon, Daria, Beykin, Gala, Rahmani, Elior, Schweiger, Regev, Tiosano, Liran, Khateb, Samer, Hagbi-Levi, Shira, Rinsky, Batya, Munitz, Refael, Winkler, Thomas W., Heid, Iris M., Halperin, Eran, Carmi, Shai, and Chowers, Itay
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- 2024
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4. SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing
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Backenroth, Daniel, Altarescu, Gheona, Zahdeh, Fouad, Mann, Tzvia, Murik, Omer, Renbaum, Paul, Segel, Reeval, Zeligson, Sharon, Hakam-Spector, Elinor, Carmi, Shai, and Zeevi, David A.
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- 2023
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5. Learning Binary Latent Variable Models: A Tensor Eigenpair Approach
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Jaffe, Ariel, Weiss, Roi, Carmi, Shai, Kluger, Yuval, and Nadler, Boaz
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Statistics - Machine Learning - Abstract
Latent variable models with hidden binary units appear in various applications. Learning such models, in particular in the presence of noise, is a challenging computational problem. In this paper we propose a novel spectral approach to this problem, based on the eigenvectors of both the second order moment matrix and third order moment tensor of the observed data. We prove that under mild non-degeneracy conditions, our method consistently estimates the model parameters at the optimal parametric rate. Our tensor-based method generalizes previous orthogonal tensor decomposition approaches, where the hidden units were assumed to be either statistically independent or mutually exclusive. We illustrate the consistency of our method on simulated data and demonstrate its usefulness in learning a common model for population mixtures in genetics.
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- 2018
6. Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations.
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Capalbo, Antonio, Wert, Guido de, Mertes, Heidi, Klausner, Liraz, Coonen, Edith, Spinella, Francesca, Velde, Hilde Van de, Viville, Stephane, Sermon, Karen, Vermeulen, Nathalie, Lencz, Todd, and Carmi, Shai
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TECHNOLOGICAL innovations ,MEDICAL personnel ,HUMAN in vitro fertilization ,GENETIC testing ,MONOGENIC & polygenic inheritance (Genetics) ,FERTILIZATION in vitro - Abstract
BACKGROUND The genetic composition of embryos generated by in vitro fertilization (IVF) can be examined with preimplantation genetic testing (PGT). Until recently, PGT was limited to detecting single-gene, high-risk pathogenic variants, large structural variants, and aneuploidy. Recent advances have made genome-wide genotyping of IVF embryos feasible and affordable, raising the possibility of screening embryos for their risk of polygenic diseases such as breast cancer, hypertension, diabetes, or schizophrenia. Despite a heated debate around this new technology, called polygenic embryo screening (PES; also PGT-P), it is already available to IVF patients in some countries. Several articles have studied epidemiological, clinical, and ethical perspectives on PES; however, a comprehensive, principled review of this emerging field is missing. OBJECTIVE AND RATIONALE This review has four main goals. First, given the interdisciplinary nature of PES studies, we aim to provide a self-contained educational background about PES to reproductive specialists interested in the subject. Second, we provide a comprehensive and critical review of arguments for and against the introduction of PES, crystallizing and prioritizing the key issues. We also cover the attitudes of IVF patients, clinicians, and the public towards PES. Third, we distinguish between possible future groups of PES patients, highlighting the benefits and harms pertaining to each group. Finally, our review, which is supported by ESHRE, is intended to aid healthcare professionals and policymakers in decision-making regarding whether to introduce PES in the clinic, and if so, how, and to whom. SEARCH METHODS We searched for PubMed-indexed articles published between 1/1/2003 and 1/3/2024 using the terms 'polygenic embryo screening', 'polygenic preimplantation', and 'PGT-P'. We limited the review to primary research papers in English whose main focus was PES for medical conditions. We also included papers that did not appear in the search but were deemed relevant. OUTCOMES The main theoretical benefit of PES is a reduction in lifetime polygenic disease risk for children born after screening. The magnitude of the risk reduction has been predicted based on statistical modelling, simulations, and sibling pair analyses. Results based on all methods suggest that under the best-case scenario, large relative risk reductions are possible for one or more diseases. However, as these models abstract several practical limitations, the realized benefits may be smaller, particularly due to a limited number of embryos and unclear future accuracy of the risk estimates. PES may negatively impact patients and their future children, as well as society. The main personal harms are an unindicated IVF treatment, a possible reduction in IVF success rates, and patient confusion, incomplete counselling, and choice overload. The main possible societal harms include discarded embryos, an increasing demand for 'designer babies', overemphasis of the genetic determinants of disease, unequal access, and lower utility in people of non-European ancestries. Benefits and harms will vary across the main potential patient groups, comprising patients already requiring IVF, fertile people with a history of a severe polygenic disease, and fertile healthy people. In the United States, the attitudes of IVF patients and the public towards PES seem positive, while healthcare professionals are cautious, sceptical about clinical utility, and concerned about patient counselling. WIDER IMPLICATIONS The theoretical potential of PES to reduce risk across multiple polygenic diseases requires further research into its benefits and harms. Given the large number of practical limitations and possible harms, particularly unnecessary IVF treatments and discarded viable embryos, PES should be offered only within a research context before further clarity is achieved regarding its balance of benefits and harms. The gap in attitudes between healthcare professionals and the public needs to be narrowed by expanding public and patient education and providing resources for informative and unbiased genetic counselling. [ABSTRACT FROM AUTHOR]
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- 2024
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7. Functional variants in the LRRK2 gene confer shared effects on risk for Crohns disease and Parkinsons disease.
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Hui, Ken, Fernandez-Hernandez, Heriberto, Hu, Jianzhong, Schaffner, Adam, Pankratz, Nathan, Hsu, Nai-Yun, Chuang, Ling-Shiang, Carmi, Shai, Villaverde, Nicole, Li, Xianting, Rivas, Manual, Levine, Adam, Bao, Xiuliang, Labrias, Philippe, Haritunians, Talin, Ruane, Darren, Gettler, Kyle, Chen, Ernie, Li, Dalin, Schiff, Elena, Pontikos, Nikolas, Barzilai, Nir, Brant, Steven, Bressman, Susan, Cheifetz, Adam, Clark, Lorraine, Daly, Mark, Desnick, Robert, Duerr, Richard, Katz, Seymour, Lencz, Todd, Myers, Richard, Ostrer, Harry, Ozelius, Laurie, Payami, Haydeh, Peter, Yakov, Rioux, John, Segal, Anthony, Scott, William, Silverberg, Mark, Vance, Jeffery, Ubarretxena-Belandia, Iban, Foroud, Tatiana, Atzmon, Gil, Peer, Itsik, Ioannou, Yiannis, McGovern, Dermot, Yue, Zhenyu, Schadt, Eric, Cho, Judy, and Peter, Inga
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Alleles ,Autophagy ,Crohn Disease ,Cytoskeleton ,Exome ,Gene Frequency ,Gene Regulatory Networks ,Genetic Loci ,Genetic Predisposition to Disease ,Genetic Variation ,Genome ,Human ,Humans ,Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ,Macrophages ,Odds Ratio ,Open Reading Frames ,Parkinson Disease ,Phenotype ,Reproducibility of Results ,Risk Factors ,Exome Sequencing - Abstract
Crohns disease (CD), a form of inflammatory bowel disease, has a higher prevalence in Ashkenazi Jewish than in non-Jewish European populations. To define the role of nonsynonymous mutations, we performed exome sequencing of Ashkenazi Jewish patients with CD, followed by array-based genotyping and association analysis in 2066 CD cases and 3633 healthy controls. We detected association signals in the LRRK2 gene that conferred risk for CD (N2081D variant, P = 9.5 × 10-10) or protection from CD (N551K variant, tagging R1398H-associated haplotype, P = 3.3 × 10-8). These variants affected CD age of onset, disease location, LRRK2 activity, and autophagy. Bayesian network analysis of CD patient intestinal tissue further implicated LRRK2 in CD pathogenesis. Analysis of the extended LRRK2 locus in 24,570 CD cases, patients with Parkinsons disease (PD), and healthy controls revealed extensive pleiotropy, with shared genetic effects between CD and PD in both Ashkenazi Jewish and non-Jewish cohorts. The LRRK2 N2081D CD risk allele is located in the same kinase domain as G2019S, a mutation that is the major genetic cause of familial and sporadic PD. Like the G2019S mutation, the N2081D variant was associated with increased kinase activity, whereas neither N551K nor R1398H variants on the protective haplotype altered kinase activity. We also confirmed that R1398H, but not N551K, increased guanosine triphosphate binding and hydrolyzing enzyme (GTPase) activity, thereby deactivating LRRK2. The presence of shared LRRK2 alleles in CD and PD provides refined insight into disease mechanisms and may have major implications for the treatment of these two seemingly unrelated diseases.
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- 2018
8. Public Attitudes, Interests, and Concerns Regarding Polygenic Embryo Screening
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Furrer, Rémy A., primary, Barlevy, Dorit, additional, Pereira, Stacey, additional, Carmi, Shai, additional, Lencz, Todd, additional, and Lázaro-Muñoz, Gabriel, additional
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- 2024
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9. Estimating effective population size trajectories from time-series Identity-by-Descent (IBD) segments
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Huang, Yilei, primary, Carmi, Shai, additional, and Ringbauer, Harald, additional
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- 2024
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10. The distribution of regions of homozygosity (ROH) among consanguineous populations - implications for a routine genetic counseling service
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Gafni-Amsalem, Chen, primary, Warwar, Nasim, additional, Khayat, Morad, additional, Tatour, Yasmin, additional, Abuleil-Zuabi, Olfat, additional, Campisi-Pinto, Salvatore, additional, Carmi, Shai, additional, and A. Shalev, Stavit, additional
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- 2024
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11. DNA says you’re related to a Viking, a medieval German Jew or a 1700s enslaved African? What a genetic match really means
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Carmi, Shai
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Genomics ,DNA ,Genetic research ,Jews ,News, opinion and commentary - Abstract
(The Conversation is an independent and nonprofit source of news, analysis and commentary from academic experts.) https://theconversation.com/profiles/shai-carmi-1369368, https://theconversation.com/institutions/hebrew-university-of-jerusalem-855 and https://theconversation.com/profiles/harald-ringbauer-1509235, https://theconversation.com/institutions/max-planck-institute-for-evolutionary-anthropology-5083 (THE CONVERSATION) In 2022, we https://theconversation.com/ancient-dna-from-the-teeth-of-14th-century-ashkenazi-jews-in-germany-already-included-genetic-variations-common-in-modern-jews-194780 buried in a [...]
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- 2024
12. MHC Haplotyping of SARS-CoV-2 Patients: HLA Subtypes Are Not Associated with the Presence and Severity of COVID-19 in the Israeli Population
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Ben Shachar, Shay, Barda, Noam, Manor, Sigal, Israeli, Sapir, Dagan, Noa, Carmi, Shai, Balicer, Ran, Zisser, Bracha, and Louzoun, Yoram
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- 2021
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13. Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing
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Zeevi, David A., Backenroth, Daniel, Hakam-Spector, Elinor, Renbaum, Paul, Mann, Tzvia, Zahdeh, Fouad, Segel, Reeval, Zeligson, Sharon, Eldar-Geva, Talia, Ben-Ami, Ido, Ben-Yehuda, Adi, Carmi, Shai, and Altarescu, Gheona
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- 2021
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14. A note on the distribution of admixture segment lengths and ancestry proportions under pulse and two-wave admixture models
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Carmi, Shai, Xue, James, and Pe'er, Itsik
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Quantitative Biology - Populations and Evolution - Abstract
Admixed populations are formed by the merging of two or more ancestral populations, and the ancestry of each locus in an admixed genome derives from either source. Consider a simple "pulse" admixture model, where populations A and B merged t generations ago without subsequent gene flow. We derive the distribution of the proportion of an admixed chromosome that has A (or B) ancestry, as a function of the chromosome length L, t, and the initial contribution of the A source, m. We demonstrate that these results can be used for inference of the admixture parameters. For more complex admixture models, we derive an expression in Laplace space for the distribution of ancestry proportions that depends on having the distribution of the lengths of segments of each ancestry. We obtain explicit results for the special case of a "two-wave" admixture model, where population A contributed additional migrants in one of the generations between the present and the initial admixture event. Specifically, we derive formulas for the distribution of A and B segment lengths and numerical results for the distribution of ancestry proportions. We show that for recent admixture, data generated under a two-wave model can hardly be distinguished from that generated under a pulse model., Comment: 12 pages, 3 figures
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- 2015
15. The SMC' is a highly accurate approximation to the ancestral recombination graph
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Wilton, Peter R., Carmi, Shai, and Hobolth, Asger
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Quantitative Biology - Populations and Evolution - Abstract
Two sequentially Markov coalescent models (SMC and SMC') are available as tractable approximations to the ancestral recombination graph (ARG). We present a Markov process describing coalescence at two fixed points along a pair of sequences evolving under the SMC'. Using our Markov process, we derive a number of new quantities related to the pairwise SMC', thereby analytically quantifying for the first time the similarity between the SMC' and ARG. We use our process to show that the joint distribution of pairwise coalescence times at recombination sites under the SMC' is the same as it is marginally under the ARG, which demonstrates that the SMC' is, in a particular well-defined, intuitive sense, the most appropriate first-order sequentially Markov approximation to the ARG. Finally, we use these results to show that population size estimates under the pairwise SMC are asymptotically biased, while under the pairwise SMC' they are approximately asymptotically unbiased., Comment: Revised manuscript
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- 2015
16. Predicting the direction of phenotypic difference
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Gokhman, David, primary, Harris, Keith D., additional, Carmi, Shai, additional, and Greenbaum, Gili, additional
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- 2024
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17. A renewal theory approach to IBD sharing
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Carmi, Shai, Wilton, Peter, Wakeley, John, and Pe'er, Itsik
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Quantitative Biology - Populations and Evolution - Abstract
A long genomic segment inherited by a pair of individuals from a single, recent common ancestor is said to be identical-by-descent (IBD). Shared IBD segments have numerous applications in genetics, from demographic inference to phasing, imputation, pedigree reconstruction, and disease mapping. Here, we provide a theoretical analysis of IBD sharing under Markovian approximations of the coalescent with recombination. We describe a general framework for the IBD process along the chromosome under the Markovian models (SMC/SMC'), as well as introduce and justify a new model, which we term the renewal approximation, under which lengths of successive segments are independent. Then, considering the infinite-chromosome limit of the IBD process, we recover previous results (for SMC) and derive new results (for SMC') for the mean number of shared segments longer than a cutoff and the fraction of the chromosome found in such segments. We then use renewal theory to derive an expression (in Laplace space) for the distribution of the number of shared segments and demonstrate implications for demographic inference. We also compute (again, in Laplace space) the distribution of the fraction of the chromosome in shared segments, from which we obtain explicit expressions for the first two moments. Finally, we generalize all results to populations with a variable effective size., Comment: 35 pages, 9 figures
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- 2014
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18. Fine-scale population structure and demographic history of British Pakistanis
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Arciero, Elena, Dogra, Sufyan A., Malawsky, Daniel S., Mezzavilla, Massimo, Tsismentzoglou, Theofanis, Huang, Qin Qin, Hunt, Karen A., Mason, Dan, Sharif, Saghira Malik, van Heel, David A., Sheridan, Eamonn, Wright, John, Small, Neil, Carmi, Shai, Iles, Mark M., and Martin, Hilary C.
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- 2021
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19. Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants
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Fridman, Hila, Behar, Doron M., Carmi, Shai, and Levy-Lahad, Ephrat
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- 2020
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20. Random walk with priorities in communication-like networks
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Bastas, Nikolaos, Maragakis, Michalis, Argyrakis, Panos, ben-Avraham, Daniel, Havlin, Shlomo, and Carmi, Shai
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Condensed Matter - Disordered Systems and Neural Networks ,Condensed Matter - Statistical Mechanics - Abstract
We study a model for a random walk of two classes of particles (A and B). Where both species are present in the same site, the motion of A's takes precedence over that of B's. The model was originally proposed and analyzed in Maragakis et al., Phys. Rev. E 77, 020103 (2008); here we provide additional results. We solve analytically the diffusion coefficients of the two species in lattices for a number of protocols. In networks, we find that the probability of a B particle to be free decreases exponentially with the node degree. In scale-free networks, this leads to localization of the B's at the hubs and arrest of their motion. To remedy this, we investigate several strategies to avoid trapping of the B's: moving an A instead of the hindered B; allowing a trapped B to hop with a small probability; biased walk towards non-hub nodes; and limiting the capacity of nodes. We obtain analytic results for lattices and networks, and discuss the advantages and shortcomings of the possible strategies., Comment: 12 pages, 11 figures
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- 2013
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21. Screening embryos for polygenic conditions and traits: ethical considerations for an emerging technology
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Lázaro-Muñoz, Gabriel, Pereira, Stacey, Carmi, Shai, and Lencz, Todd
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- 2021
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22. The variance of identity-by-descent sharing in the Wright-Fisher model
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Carmi, Shai, Palamara, Pier Francesco, Vacic, Vladimir, Lencz, Todd, Darvasi, Ariel, and Pe'er, Itsik
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Quantitative Biology - Populations and Evolution - Abstract
Widespread sharing of long, identical-by-descent (IBD) genetic segments is a hallmark of populations that have experienced recent genetic drift. Detection of these IBD segments has recently become feasible, enabling a wide range of applications from phasing and imputation to demographic inference. Here, we study the distribution of IBD sharing in the Wright-Fisher model. Specifically, using coalescent theory, we calculate the variance of the total sharing between random pairs of individuals. We then investigate the cohort-averaged sharing: the average total sharing between one individual and the rest of the cohort. We find that for large cohorts, the cohort-averaged sharing is distributed approximately normally. Surprisingly, the variance of this distribution does not vanish even for large cohorts, implying the existence of "hyper-sharing" individuals. The presence of such individuals has consequences for the design of sequencing studies, since, if they are selected for whole-genome sequencing, a larger fraction of the cohort can be subsequently imputed. We calculate the expected gain in power of imputation by IBD, and subsequently, in power to detect an association, when individuals are either randomly selected or specifically chosen to be the hyper-sharing individuals. Using our framework, we also compute the variance of an estimator of the population size that is based on the mean IBD sharing and the variance in the sharing between inbred siblings. Finally, we study IBD sharing in an admixture pulse model, and show that in the Ashkenazi Jewish population the admixture fraction is correlated with the cohort-averaged sharing., Comment: Includes Supplementary Material
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- 2012
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23. A fractional Feynman-Kac equation for weak ergodicity breaking
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Carmi, Shai and Barkai, Eli
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Condensed Matter - Statistical Mechanics ,Condensed Matter - Disordered Systems and Neural Networks - Abstract
Continuous-time random walk (CTRW) is a model of anomalous sub-diffusion in which particles are immobilized for random times between successive jumps. A power-law distribution of the waiting times, $\psi(\tau) \tau^{-(1+\alpha)}$, leads to sub-diffusion ($
~t^{\alpha}$) for 0<\alpha<1. In closed systems, the long stagnation periods cause time-averages to divert from the corresponding ensemble averages, which is a manifestation of weak ergodicity breaking. The time-average of a general observable $\bar{U} = \int_0^t U[x(\tau)]d\tau / t$ is a functional of the path and is described by the well known Feynman-Kac equation if the motion is Brownian. Here, we derive forward and backward fractional Feynman-Kac equations for functionals of CTRW in a binding potential. We use our equations to study two specific time-averages: the fraction of time spent by a particle in half box, and the time-average of the particle's position in a harmonic field. In both cases, we obtain the probability density function of the time-averages for $t \rightarrow \infty$ and the first two moments. Our results show that both the occupation fraction and the time-averaged position are random variables even for long-times, except for \alpha=1 when they are identical to their ensemble averages. Using the fractional Feynman-Kac equation, we also study the dynamics leading to weak ergodicity breaking, namely the convergence of the fluctuations to their asymptotic values., Comment: 14 pages, 4 figures - Published
- 2011
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24. On distributions of functionals of anomalous diffusion paths
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Carmi, Shai, Turgeman, Lior, and Barkai, Eli
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Condensed Matter - Statistical Mechanics ,Condensed Matter - Disordered Systems and Neural Networks ,Condensed Matter - Soft Condensed Matter - Abstract
Functionals of Brownian motion have diverse applications in physics, mathematics, and other fields. The probability density function (PDF) of Brownian functionals satisfies the Feynman-Kac formula, which is a Schrodinger equation in imaginary time. In recent years there is a growing interest in particular functionals of non-Brownian motion, or anomalous diffusion, but no equation existed for their PDF. Here, we derive a fractional generalization of the Feynman-Kac equation for functionals of anomalous paths based on sub-diffusive continuous-time random walk. We also derive a backward equation and a generalization to Levy flights. Solutions are presented for a wide number of applications including the occupation time in half space and in an interval, the first passage time, the maximal displacement, and the hitting probability. We briefly discuss other fractional Schrodinger equations that recently appeared in the literature., Comment: 25 pages, 4 figures
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- 2010
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25. Epidemic threshold for the SIS model on networks
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Parshani, Roni, Carmi, Shai, and Havlin, Shlomo
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Condensed Matter - Disordered Systems and Neural Networks ,Physics - Data Analysis, Statistics and Probability - Abstract
We derive an analytical expression for the critical infection rate r_c of the susceptible-infectious-susceptible (SIS) disease spreading model on random networks. To obtain r_c, we first calculate the probability of reinfection, pi, defined as the probability of a node to reinfect the node that had earlier infected it. We then derive r_c from pi using percolation theory. We show that pi is governed by two effects: (i) The requirement from an infecting node to recover prior to its reinfection, which depends on the disease spreading parameters; and (ii) The competition between nodes that simultaneously try to reinfect the same ancestor, which depends on the network topology.
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- 2009
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26. From non-Brownian Functionals to a Fractional Schr\'odinger Equation
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Turgeman, Lior, Carmi, Shai, and Barkai, Eli
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Condensed Matter - Statistical Mechanics - Abstract
We derive backward and forward fractional Schr\"odinger type of equations for the distribution of functionals of the path of a particle undergoing anomalous diffusion. Fractional substantial derivatives introduced by Friedrich and co-workers [PRL {\bf 96}, 230601 (2006)] provide the correct fractional framework for the problem at hand. In the limit of normal diffusion we recover the Feynman-Kac treatment of Brownian functionals. For applications, we calculate the distribution of occupation times in half space and show how statistics of anomalous functionals is related to weak ergodicity breaking., Comment: 5 pages
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- 2009
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27. Asymptotic behavior of the Kleinberg model
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Carmi, Shai, Carter, Stephen, Sun, Jie, and ben-Avraham, Daniel
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Condensed Matter - Statistical Mechanics ,Physics - Physics and Society - Abstract
We study Kleinberg navigation (the search of a target in a d-dimensional lattice, where each site is connected to one other random site at distance r, with probability proportional to r^{-a}) by means of an exact master equation for the process. We show that the asymptotic scaling behavior for the delivery time T to a target at distance L scales as (ln L)^2 when a=d, and otherwise as L^x, with x=(d-a)/(d+1-a) for a
d+1. These values of x exceed the rigorous lower-bounds established by Kleinberg. We also address the situation where there is a finite probability for the message to get lost along its way and find short delivery times (conditioned upon arrival) for a wide range of a's. - Published
- 2009
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28. Modeling the effects of consanguinity on autosomal and X-chromosomal runs of homozygosity and identity-by-descent sharing
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Cotter, Daniel J, primary, Severson, Alissa L, additional, Kang, Jonathan T L, additional, Godrej, Hormazd N, additional, Carmi, Shai, additional, and Rosenberg, Noah A, additional
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- 2023
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29. Polygenic Embryo Screening: High Approval Despite Substantial Concerns from the U.S. Public
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Furrer, Remy A, primary, Barlevy, Dorit, additional, Pereira, Stacey, additional, Carmi, Shai, additional, Lencz, Todd, additional, and Lazaro-Munoz, Gabriel, additional
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- 2023
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30. Divergence Between Clinician and Patient Perspectives on Polygenic Embryo Screening: A Qualitative Study
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Barlevy, Dorit, primary, Cenolli, Ilona, additional, Campbell, Tiffany, additional, Furrer, Remy, additional, Mukherjee, Meghna, additional, Kostick-Quenet, Kristin Marie, additional, Carmi, Shai, additional, Lencz, Todd, additional, Lazaro-Munoz, Gabriel, additional, and Pereira, Stacey, additional
- Published
- 2023
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31. POLYGENIC EMBRYO SCREENING: PATIENT INTEREST AND CLINICIAN RESERVATIONS
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Barlevy, Dorit, primary, Cenolli, Ilona, additional, Campbell, Tiffany A., additional, Furrer, Rémy A., additional, Kostick-Quenet, Kristin, additional, Carmi, Shai, additional, Lencz, Todd, additional, Pereira, Stacey, additional, and Lazaro-Munoz, Gabriel, additional
- Published
- 2023
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32. Energy-landscape network approach to the glass transition
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Carmi, Shai, Havlin, Shlomo, Song, Chaoming, Wang, Kun, and Makse, Hernan A.
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Condensed Matter - Soft Condensed Matter - Abstract
We study the energy-landscape network of Lennard-Jones clusters as a model of a glass forming system. We find the stable basins and the first order saddles connecting them, and identify them with the network nodes and links, respectively. We analyze the network properties and model the system's evolution. Using the model, we explore the system's response to varying cooling rates, and reproduce many of the glass transition properties. We also find that the static network structure gives rise to a critical temperature where a percolation transition breaks down the space of configurations into disconnected components. Finally, we discuss the possibility of studying the system mathematically with a trap-model generalized to networks., Comment: 4 pages, 6 figures
- Published
- 2008
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33. Trapping in complex networks
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Kittas, Aristotelis, Carmi, Shai, Havlin, Shlomo, and Argyrakis, Panos
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Condensed Matter - Disordered Systems and Neural Networks ,Condensed Matter - Statistical Mechanics - Abstract
We investigate the trapping problem in Erdos-Renyi (ER) and Scale-Free (SF) networks. We calculate the evolution of the particle density $\rho(t)$ of random walkers in the presence of one or multiple traps with concentration $c$. We show using theory and simulations that in ER networks, while for short times $\rho(t) \propto \exp(-Act)$, for longer times $\rho(t)$ exhibits a more complex behavior, with explicit dependence on both the number of traps and the size of the network. In SF networks we reveal the significant impact of the trap's location: $\rho(t)$ is drastically different when a trap is placed on a random node compared to the case of the trap being on the node with the maximum connectivity. For the latter case we find $\rho(t)\propto\exp\left[-At/N^\frac{\gamma-2}{\gamma-1}\av{k}\right]$ for all $\gamma>2$, where $\gamma$ is the exponent of the degree distribution $P(k)\propto k^{-\gamma}$., Comment: Appendix added
- Published
- 2008
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34. Partition of Networks into Basins of Attraction
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Carmi, Shai, Krapivsky, P. L., and ben-Avraham, Daniel
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Condensed Matter - Disordered Systems and Neural Networks ,Condensed Matter - Other Condensed Matter - Abstract
We study partition of networks into basins of attraction based on a steepest ascent search for the node of highest degree. Each node is associated with, or "attracted" to its neighbor of maximal degree, as long as the degree is increasing. A node that has no neighbors of higher degree is a peak, attracting all the nodes in its basin. Maximally random scale-free networks exhibit different behavior based on their degree distribution exponent $\gamma$: for small $\gamma$ (broad distribution) networks are dominated by a giant basin, whereas for large $\gamma$ (narrow distribution) there are numerous basins, with peaks attracting mainly their nearest neighbors. We derive expressions for the first two moments of the number of basins. We also obtain the complete distribution of basin sizes for a class of hierarchical deterministic scale-free networks that resemble random nets. Finally, we generalize the problem to regular networks and lattices where all degrees are equal, and thus the attractiveness of a node must be determined by an assigned weight, rather than the degree. We derive the complete distribution of basins of attraction resulting from randomly assigned weights in one-dimensional chains.
- Published
- 2008
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35. Transport in networks with multiple sources and sinks
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Carmi, Shai, Wu, Zhenhua, Havlin, Shlomo, and Stanley, H. Eugene
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Computer Science - Discrete Mathematics ,Condensed Matter - Disordered Systems and Neural Networks - Abstract
We investigate the electrical current and flow (number of parallel paths) between two sets of n sources and n sinks in complex networks. We derive analytical formulas for the average current and flow as a function of n. We show that for small n, increasing n improves the total transport in the network, while for large n bottlenecks begin to form. For the case of flow, this leads to an optimal n* above which the transport is less efficient. For current, the typical decrease in the length of the connecting paths for large n compensates for the effect of the bottlenecks. We also derive an expression for the average flow as a function of n under the common limitation that transport takes place between specific pairs of sources and sinks.
- Published
- 2008
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36. Identity inference of genomic data using long-range familial searches
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Erlich, Yaniv, Shor, Tal, Pe’er, Itsik, and Carmi, Shai
- Published
- 2018
37. Priority diffusion model in lattices and complex networks
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Maragakis, Michalis, Carmi, Shai, ben-Avraham, Daniel, Havlin, Shlomo, and Argyrakis, Panos
- Subjects
Condensed Matter - Statistical Mechanics ,Condensed Matter - Disordered Systems and Neural Networks - Abstract
We introduce a model for diffusion of two classes of particles ($A$ and $B$) with priority: where both species are present in the same site the motion of $A$'s takes precedence over that of $B$'s. This describes realistic situations in wireless and communication networks. In regular lattices the diffusion of the two species is normal but the $B$ particles are significantly slower, due to the presence of the $A$ particles. From the fraction of sites where the $B$ particles can move freely, which we compute analytically, we derive the diffusion coefficients of the two species. In heterogeneous networks the fraction of sites where $B$ is free decreases exponentially with the degree of the sites. This, coupled with accumulation of particles in high-degree nodes leads to trapping of the low priority particles in scale-free networks., Comment: 5 pages, 3 figures
- Published
- 2007
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38. Limited path percolation in complex networks
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López, Eduardo, Parshani, Roni, Cohen, Reuven, Carmi, Shai, and Havlin, Shlomo
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Condensed Matter - Statistical Mechanics ,Condensed Matter - Disordered Systems and Neural Networks - Abstract
We study the stability of network communication after removal of $q=1-p$ links under the assumption that communication is effective only if the shortest path between nodes $i$ and $j$ after removal is shorter than $a\ell_{ij} (a\geq1)$ where $\ell_{ij}$ is the shortest path before removal. For a large class of networks, we find a new percolation transition at $\tilde{p}_c=(\kappa_o-1)^{(1-a)/a}$, where $\kappa_o\equiv < k^2>/< k>$ and $k$ is the node degree. Below $\tilde{p}_c$, only a fraction $N^{\delta}$ of the network nodes can communicate, where $\delta\equiv a(1-|\log p|/\log{(\kappa_o-1)}) < 1$, while above $\tilde{p}_c$, order $N$ nodes can communicate within the limited path length $a\ell_{ij}$. Our analytical results are supported by simulations on Erd\H{o}s-R\'{e}nyi and scale-free network models. We expect our results to influence the design of networks, routing algorithms, and immunization strategies, where short paths are most relevant., Comment: 11 pages, 3 figures, 1 table
- Published
- 2007
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39. Anomalous electrical and frictionless flow conductance in complex networks
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López, Eduardo, Carmi, Shai, Havlin, Shlomo, Buldyrev, Sergey V., and Stanley, H. Eugene
- Subjects
Condensed Matter - Disordered Systems and Neural Networks - Abstract
We study transport properties such as electrical and frictionless flow conductance on scale-free and Erdos-Renyi networks. We consider the conductance G between two arbitrarily chosen nodes where each link has the same unit resistance. Our theoretical analysis for scale-free networks predicts a broad range of values of G, with a power-law tail distribution \Phi_{SF}(G) \sim G^{g_G}, where g_G = 2\lambda - 1, where \lambda is the decay exponent for the scale-free network degree distribution. We confirm our predictions by simulations of scale-free networks solving the Kirchhoff equations for the conductance between a pair of nodes. The power-law tail in \Phi_{SF}(G) leads to large values of G, thereby significantly improving the transport in scale-free networks, compared to Erdos-Renyi networks where the tail of the conductivity distribution decays exponentially. Based on a simple physical 'transport backbone' picture we suggest that the conductances of scale-free and Erdos-Renyi networks can be approximated by ck_Ak_B/(k_A+k_B) for any pair of nodes A and B with degrees k_A and k_B. Thus, a single quantity c, which depends on the average degree
of the network, characterizes transport on both scale-free and Erdos-Renyi networks. We determine that c tends to 1 for increasing , and it is larger for scale-free networks. We compare the electrical results with a model for frictionless transport, where conductance is defined as the number of link-independent paths between A and B, and find that a similar picture holds. The effects of distance on the value of conductance are considered for both models, and some differences emerge. Finally, we use a recent data set for the AS (autonomous system) level of the Internet and confirm that our results are valid in this real-world example., Comment: 8 pages, 11 figures - Published
- 2006
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40. Transport of multiple users in complex networks
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Carmi, Shai, Wu, Zhenhua, López, Eduardo, Havlin, Shlomo, and Stanley, H. Eugene
- Subjects
Condensed Matter - Disordered Systems and Neural Networks - Abstract
We study the transport properties of model networks such as scale-free and Erd\H{o}s-R\'{e}nyi networks as well as a real network. We consider the conductance $G$ between two arbitrarily chosen nodes where each link has the same unit resistance. Our theoretical analysis for scale-free networks predicts a broad range of values of $G$, with a power-law tail distribution $\Phi_{\rm SF}(G)\sim G^{-g_G}$, where $g_G=2\lambda -1$, and $\lambda$ is the decay exponent for the scale-free network degree distribution. We confirm our predictions by large scale simulations. The power-law tail in $\Phi_{\rm SF}(G)$ leads to large values of $G$, thereby significantly improving the transport in scale-free networks, compared to Erd\H{o}s-R\'{e}nyi networks where the tail of the conductivity distribution decays exponentially. We develop a simple physical picture of the transport to account for the results. We study another model for transport, the \emph{max-flow} model, where conductance is defined as the number of link-independent paths between the two nodes, and find that a similar picture holds. The effects of distance on the value of conductance are considered for both models, and some differences emerge. We then extend our study to the case of multiple sources, where the transport is define between two \emph{groups} of nodes. We find a fundamental difference between the two forms of flow when considering the quality of the transport with respect to the number of sources, and find an optimal number of sources, or users, for the max-flow case. A qualitative (and partially quantitative) explanation is also given.
- Published
- 2006
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41. New Model of Internet Topology Using k-shell Decomposition
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Carmi, Shai, Havlin, Shlomo, Kirkpatrick, Scott, Shavitt, Yuval, and Shir, Eran
- Subjects
Computer Science - Networking and Internet Architecture ,Condensed Matter - Disordered Systems and Neural Networks - Abstract
We introduce and use k-shell decomposition to investigate the topology of the Internet at the AS level. Our analysis separates the Internet into three sub-components: (a) a nucleus which is a small (~100 nodes) very well connected globally distributed subgraph; (b) a fractal sub-component that is able to connect the bulk of the Internet without congesting the nucleus, with self similar properties and critical exponents; and (c) dendrite-like structures, usually isolated nodes that are connected to the rest of the network through the nucleus only. This unique decomposition is robust, and provides insight into the underlying structure of the Internet and its functional consequences. Our approach is general and useful also when studying other complex networks., Comment: 4 pages, 4 figures
- Published
- 2006
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42. Search in Complex Networks : a New Method of Naming
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Carmi, Shai, Cohen, Reuven, and Dolev, Danny
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Computer Science - Networking and Internet Architecture ,Condensed Matter - Disordered Systems and Neural Networks - Abstract
We suggest a method for routing when the source does not posses full information about the shortest path to the destination. The method is particularly useful for scale-free networks, and exploits its unique characteristics. By assigning new (short) names to nodes (aka labelling) we are able to reduce significantly the memory requirement at the routers, yet we succeed in routing with high probability through paths very close in distance to the shortest ones., Comment: 5 pages, 4 figures
- Published
- 2006
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43. MEDUSA - New Model of Internet Topology Using k-shell Decomposition
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Carmi, Shai, Havlin, Shlomo, Kirkpatrick, Scott, Shavitt, Yuval, and Shir, Eran
- Subjects
Condensed Matter - Disordered Systems and Neural Networks ,Condensed Matter - Statistical Mechanics ,Physics - Physics and Society - Abstract
The k-shell decomposition of a random graph provides a different and more insightful separation of the roles of the different nodes in such a graph than does the usual analysis in terms of node degrees. We develop this approach in order to analyze the Internet's structure at a coarse level, that of the "Autonomous Systems" or ASes, the subnetworks out of which the Internet is assembled. We employ new data from DIMES (see http://www.netdimes.org), a distributed agent-based mapping effort which at present has attracted over 3800 volunteers running more than 7300 DIMES clients in over 85 countries. We combine this data with the AS graph information available from the RouteViews project at Univ. Oregon, and have obtained an Internet map with far more detail than any previous effort. The data suggests a new picture of the AS-graph structure, which distinguishes a relatively large, redundantly connected core of nearly 100 ASes and two components that flow data in and out from this core. One component is fractally interconnected through peer links; the second makes direct connections to the core only. The model which results has superficial similarities with and important differences from the "Jellyfish" structure proposed by Tauro et al., so we call it a "Medusa." We plan to use this picture as a framework for measuring and extrapolating changes in the Internet's physical structure. Our k-shell analysis may also be relevant for estimating the function of nodes in the "scale-free" graphs extracted from other naturally-occurring processes., Comment: 24 pages, 17 figures
- Published
- 2006
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44. Connectivity and expression in protein networks: Proteins in a complex are uniformly expressed
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Carmi, Shai, Levanon, Erez Y., Havlin, Shlomo, and Eisenberg, Eli
- Subjects
Quantitative Biology - Molecular Networks ,Condensed Matter - Other Condensed Matter ,Quantitative Biology - Other Quantitative Biology - Abstract
We explore the interplay between the protein-protein interactions network and the expression of the interacting proteins. It is shown that interacting proteins are expressed in significantly more similar cellular concentrations. This is largely due to interacting pairs which are part of protein complexes. We solve a generic model of complex formation and show explicitly that complexes form most efficiently when their members have roughly the same concentrations. Therefore, the observed similarity in interacting protein concentrations could be attributed to optimization for efficiency of complex formation., Comment: revised version; accepted for publication in PRE
- Published
- 2005
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45. A test for deviations from expected genotype frequencies on the X chromosome for sex-biased admixed populations
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Backenroth, Daniel and Carmi, Shai
- Published
- 2019
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46. Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy
- Author
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Backenroth, Daniel, Zahdeh, Fouad, Kling, Yehuda, Peretz, Aharon, Rosen, Tzvia, Kort, Dina, Zeligson, Sharon, Dror, Tal, Kirshberg, Sophie, Burak, Efrat, Segel, Reeval, Levy-Lahad, Ephrat, Zangen, David, Altarescu, Gheona, Carmi, Shai, and Zeevi, David A.
- Published
- 2019
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47. Off the street phasing (OTSP): no hassle haplotype phasing for molecular PGD applications
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Zeevi, David A., Zahdeh, Fouad, Kling, Yehuda, Carmi, Shai, and Altarescu, Gheona
- Published
- 2019
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48. A study of Kibbutzim in Israel reveals risk factors for cardiometabolic traits and subtle population structure
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Granot-Hershkovitz, Einat, Karasik, David, Friedlander, Yechiel, Rodriguez-Murillo, Laura, Dorajoo, Rajkumar, Liu, Jianjun, Sewda, Anshuman, Peter, Inga, Carmi, Shai, and Hochner, Hagit
- Published
- 2018
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49. Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve
- Author
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Tessler, Idit, primary, Albuisson, Juliette, additional, Piñeiro-Sabarís, Rebeca, additional, Verstraeten, Aline, additional, Kamber Kaya, Hatem Elif, additional, Siguero-Álvarez, Marcos, additional, Goudot, Guillaume, additional, MacGrogan, Donal, additional, Luyckx, Ilse, additional, Shpitzen, Shoshana, additional, Levin, Galina, additional, Kelman, Guy, additional, Reshef, Noga, additional, Mananet, Hugo, additional, Holdcraft, Jake, additional, Muehlschlegel, Jochen D., additional, Peloso, Gina M., additional, Oppenheim, Olya, additional, Cheng, Charles, additional, Mazzella, Jean-Michael, additional, Andelfinger, Gregor, additional, Mital, Seema, additional, Eriksson, Per, additional, Billon, Clarisse, additional, Heydarpour, Mahyar, additional, Dietz, Harry C., additional, Jeunemaitre, Xavier, additional, Leitersdorf, Eran, additional, Sprinzak, David, additional, Blacklow, Stephen C., additional, Body, Simon C., additional, Carmi, Shai, additional, Loeys, Bart, additional, de la Pompa, José Luis, additional, Gilon, Dan, additional, Messas, Emmanuel, additional, and Durst, Ronen, additional
- Published
- 2023
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50. Rapidly Registering Identity-by-Descent Across Ancestral Recombination Graphs
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Yang, Shuo, Carmi, Shai, Pe’er, Itsik, Istrail, Sorin, Series editor, Pevzner, Pavel, Series editor, Waterman, Michael, Series editor, and Przytycka, Teresa M., editor
- Published
- 2015
- Full Text
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