Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins
Open accessAbstract
The Ashkenazi Jewish (AJ) population is a genetic isolate close to European and Middle Eastern groups, with genetic diversity patterns conducive to disease mapping. Here we report high-depth sequencing of 128 complete genomes of AJ controls. Compared with European samples, our AJ panel has 47% more novel variants per genome and is eightfold more effective at filtering benign variants out of AJ clinical genomes. Our panel improves imputation accuracy for AJ SNP arrays by 28%, and covers at least one haplotype in ≈67% of any AJ genome with long, identical-by-descent segments. Reconstruction of recent AJ history from such segments confirms a recent bottleneck of merely ≈350 individuals. Modelling of ancient histories for AJ and European populations using their joint allele frequency spectrum determines AJ to be an even admixture of European and likely Middle Eastern origins. We date the split between the two ancestral populations to ≈12–25 Kyr, suggesting a predominantly Near Eastern source for the repopulation of Europe after the Last Glacial Maximum. Ashkenazi Jews are a genetically isolated population with distinct patterns of genetic diversity. Here, the authors sequence the genomes of 128 Ashkenazi Jewish individuals and use the sequence information to provide insight into the population's European and Middle Eastern origins.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Ashkenazi and Moroccan Jews both have a history in Europe.
“The European-related component is highest in the European control populations (English and Tuscan), as well as in Ashkenazi and Moroccan Jews, both having a history in Europe (Atzmon et al., 2010; Carmi et al., 2014; Schroeter, 2008).”
From The Genomic History of the Bronze Age Southern Levant (2020) · cites this paper as Carmi et al., 2014
The Abstract identifies Ashkenazi Jews as having Central and Eastern European ancestry, and the Results describe a substantial ancestral European contribution to their gene pool. Our copy does not address whether Moroccan Jews have a history in Europe, so it supports only the Ashkenazi part of the claim. (LLM, conf=0.88)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Subramanian, A., Tamayo, P., Mootha, V. K., Mukherjee, S., Ebert, B. L., Gillette, M. A., Paulovich, A., Pomeroy, S. L., Golub, T. R., Lander, E. S., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0506580102 · Cited by 53,625 · see citing works
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089 · see citing works
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Wang, K., Li, M., & Hakonarson, H. H. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq603 · Cited by 14,380 · see citing works
A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194 · see citing works
The Human Genome Browser at UCSC
Kent, W. J., Sugnet, C. W., Furey, T. S., Roskin, K. M., Pringle, T. H., Zahler, A. M., & Haussler, A. D. (2002) · Genome Research · doi:10.1101/gr.229102 · Cited by 10,400 · see citing works
An integrated map of genetic variation from 1,092 human genomes
The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711 · see citing works
Population Structure and Eigenanalysis
Patterson, N., Price, A. L., & Reich, D. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020190 · Cited by 5,280 · see citing works
A second generation human haplotype map of over 3.1 million SNPs
The International HapMap Consortium (2007) · Nature · doi:10.1038/nature06258 · Cited by 4,438 · see citing works
Howie, B. N., Donnelly, P., & Marchini, J. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000529 · Cited by 3,928 · see citing works
The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews.
Struewing, J., Hartge, P., Wacholder, S., Baker, S. M., Berlin, M., McAdams, M., Timmerman, M. M., Brody, L., & Tucker, M. A. (1997) · New England Journal of Medicine · doi:10.1056/nejm199705153362001 · Cited by 2,399 · see citing works
Rate of de novo mutations and the importance of father’s age to disease risk
Kong, A., Frigge, M. L., Masson, G., Besenbacher, S., Sulem, P., Magnusson, G., Gudjonsson, S. A., Sigurdsson, A., Jonasdottir, A., Jonasdottir, A., et al. (2012) · Nature · doi:10.1038/nature11396 · Cited by 2,134 · see citing works
Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation
Li, J. Z., Absher, D. M., Tang, H., Southwick, A. M., Casto, A. M., Ramachandran, S., Cann, H. M., Barsh, G. S., Feldman, M. W., Cavalli-Sforza, L. L., et al. (2008) · Science · doi:10.1126/science.1153717 · Cited by 1,947 · see citing works
Gutenkunst, R. N., Hernandez, R. D., Williamson, S. H., & Bustamante, C. D. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000695 · Cited by 1,906 · see citing works
Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++
Davydov, E. V., Goode, D. L., Sirota, M., Cooper, G. M., Sidow, A., & Batzoglou, S. (2010) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1001025 · Cited by 1,757 · see citing works
Fast and accurate genotype imputation in genome-wide association studies through pre-phasing
Howie, B., Fuchsberger, C., Stephens, M., Marchini, J., & Abecasis, G. R. (2012) · Nature Genetics · doi:10.1038/ng.2354 · Cited by 1,737 · see citing works
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
Tennessen, J. A., Bigham, A. W., O’Connor, T. D., Fu, W., Kenny, E. E., Gravel, S., McGee, S., Do, R., Liu, X., Jun, G., et al. (2012) · Science · doi:10.1126/science.1219240 · Cited by 1,613 · see citing works
Self-citationAncient human genomes suggest three ancestral populations for present-day Europeans
Lazaridis, I., Patterson, N., Mittnik, A., Renaud, G., Mallick, S., Kirsanow, K., Sudmant, P. H., Schraiber, J. G., Castellano, S., Lipson, M., et al. (2014) · Nature · doi:10.1038/nature13673 · Cited by 1,357 · see citing works
Improved whole-chromosome phasing for disease and population genetic studies
Delaneau, O., Zagury, J., & Marchini, J. (2012) · Nature Methods · doi:10.1038/nmeth.2307 · Cited by 1,309 · see citing works
Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
Drmanac, R., Sparks, A. B., Callow, M. J., Halpern, A. L., Burns, N. L., Kermani, B. G., Carnevali, P., Nazarenko, I., Nilsen, G. B., Yeung, G., et al. (2010) · Science · doi:10.1126/science.1181498 · Cited by 1,212 · see citing works
LRRK2 G2019S as a Cause of Parkinson's Disease in Ashkenazi Jews
Ozelius, L. J., Senthil, G., Saunders-Pullman, R. J., Ohmann, E. L., Deligtisch, A., Tagliati, M., Hunt, A. L., Klein, C., Henick, B. S., Hailpern, S. M., et al. (2006) · New England Journal of Medicine · doi:10.1056/nejmc055509 · Cited by 663 · see citing works
Demographic history and rare allele sharing among human populations
Gravel, S., Henn, B. M., Gutenkunst, R. N., Indap, A. R., Marth, G., Clark, A. G., Yu, F., Gibbs, R. A., The 1000 Genomes Project, Bustamante, C. D., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1019276108 · Cited by 625 · see citing works
Revising the human mutation rate: implications for understanding human evolution
Scally, A., & Durbin, R. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3295 · Cited by 610 · see citing works
Origins and Genetic Legacy of Neolithic Farmers and Hunter-Gatherers in Europe
Skoglund, P., Malmström, H., Raghavan, M., Storå, J., Hall, P. N., Willerslev, E., Gilbert, M. T. P., Götherström, A., & Jakobsson, M. (2012) · Science · doi:10.1126/science.1216304 · Cited by 593 · see citing works
Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants
Keinan, A., & Clark, A. G. (2012) · Science · doi:10.1126/science.1217283 · Cited by 548 · see citing works
Whole population, genome-wide mapping of hidden relatedness
Gusev, A., Lowe, J. K., Stoffel, M., Daly, M. J., Altshuler, D., Breslow, J. L., Friedman, J. M., & Pe'er, I. (2009) · Genome Research · doi:10.1101/gr.081398.108 · Cited by 450 · see citing works
Ancient DNA from European Early Neolithic Farmers Reveals Their Near Eastern Affinities
Haak, W., Balanovsky, O. P., Sánchez, J. J., Михайлович, К. С., Владимирович, З. В., Adler, C. J., Sarkissian, C. S. I. D., Brandt, G., Schwarz, C., Nicklisch, N., et al. (2010) · PLoS Biology · doi:10.1371/journal.pbio.1000536 · Cited by 437 · see citing works
The genome-wide structure of the Jewish people
Behar, D. M., Yunusbayev, B., Metspalu, M., Metspalu, E., Rosset, S., Parik, J., Rootsi, S., Chaubey, G., Kutuev, I. A., Yudkovsky, G., et al. (2010) · Nature · doi:10.1038/nature09103 · Cited by 407 · see citing works
Fast and flexible simulation of DNA sequence dataPreprint
Chen, G. K., Marjoram, P., & Wall, J. D. (2008) · Genome Research · doi:10.1101/gr.083634.108 · Cited by 394 · see citing works
Proportionally more deleterious genetic variation in European than in African populations
Lohmueller, K. E., Indap, A. R., Schmidt, S., Boyko, A. R., Hernandez, R. D., Hubisz, M. J., Sninsky, J. J., White, T. J., Sunyaev, S. R., Nielsen, R., et al. (2008) · Nature · doi:10.1038/nature06611 · Cited by 374 · see citing works
Discerning the ancestry of European Americans in genetic association studies
Price, A. L., Butler, J., Patterson, N., Capelli, C., Pascali, V. L., Scarnicci, F., Ruiz-Linares, A., Groop, L., Saetta, A. A., Korkolopoulou, P., et al. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.0030236 · Cited by 327 · see citing works
Ancient DNA Reveals Key Stages in the Formation of Central European Mitochondrial Genetic Diversity
Brandt, G., Haak, W., Adler, C. J., Roth, C., Szécsényi-Nagy, A., Karimnia, S., Möller-Rieker, S., Meller, H., Ganslmeier, R., Friederich, S., et al. (2013) · Science · doi:10.1126/science.1241844 · Cited by 322 · see citing works
The earliest evidence for anatomically modern humans in northwestern Europe
Higham, T., Compton, T., Stringer, C. B., Jacobi, R. M., Shapiro, B., Trinkaus, E., Chandler, B., Gröning, F., Collins, C., Hillson, S. W., et al. (2011) · Nature · doi:10.1038/nature10484 · Cited by 302 · see citing works
Determinants of Mutation Rate Variation in the Human Germline
Ségurel, L., Wyman, M. J., & Przeworski, M. (2014) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-031714-125740 · Cited by 289 · see citing works
An Icelandic example of the impact of population structure on association studies
Helgason, A., Yngvadóttir, B., Hrafnkelsson, B., Gulcher, J. R., & Stefánsson, K. (2004) · Nature Genetics · doi:10.1038/ng1492 · Cited by 285 · see citing works
The deleterious mutation load is insensitive to recent population history.
Simons, Y. B., Turchin, M. C., Pritchard, J. K., & Sella, G. (2014) · Nature Genetics · doi:10.1038/ng.2896 · Cited by 279 · see citing works
Properties and rates of germline mutations in humans
Campbell, C. D., & Eichler, E. E. (2013) · Trends in Genetics · doi:10.1016/j.tig.2013.04.005 · Cited by 277 · see citing works
Keinan, A., Mullikin, J. C., Patterson, N., & Reich, D. (2007) · Nature Genetics · doi:10.1038/ng2116 · Cited by 272 · see citing works
Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits
Styrkársdóttir, U., Þorleifsson, G., Sulem, P., Gudbjartsson, D. F., Sigurðsson, Á., Jónasdóttir, Á., Jónasdóttir, A., Oddsson, Á., Helgason, A., Magnússon, Ó. Þ., et al. (2013) · Nature · doi:10.1038/nature12124 · Cited by 271 · see citing works
Atzmon, G., Hao, L., Pe'er, I., Velez, C., Pearlman, A., Palamara, P. F., Morrow, B., Friedman, E., Oddoux, C., Burns, E., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.015 · Cited by 260 · see citing works
Self-citationLength Distributions of Identity by Descent Reveal Fine-Scale Demographic History
Palamara, P. F., Lencz, T., Darvasi, A., & Pe’er, I. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.08.030 · Cited by 247 · see citing works
Genotype-Imputation Accuracy across Worldwide Human Populations
Huang, L., Li, Y., Singleton, A., Hardy, J., Abecasis, G. R., Rosenberg, N. A., & Scheet, P. A. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.01.013 · Cited by 243 · see citing works
Reconstructing Native American Migrations from Whole-Genome and Whole-Exome Data
Gravel, S., Zakharia, F., Moreno‐Estrada, A., Byrnes, J., Muzzio, M., Rodríguez-Flores, J. L., Kenny, E. E., Gignoux, C. R., Maples, B. K., Guiblet, W. M., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1004023 · Cited by 179 · see citing works
Mitochondrial DNA Signals of Late Glacial Recolonization of Europe from Near Eastern Refugia
Pala, M., Olivieri, A., Achilli, A., Accetturo, M., Metspalu, E., Reidla, M., Tamm, E., Karmin, M., Reisberg, T., Kashani, B. H., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.04.003 · Cited by 178 · see citing works
Liu, X., Cheng, R., Verbitsky, M., Kisselev, S., Browne, A., Mejia‐Santana, H., Louis, E. D., COTE, L. J., Andrews, H., Waters, C., et al. (2011) · BMC Medical Genetics · doi:10.1186/1471-2350-12-104 · Cited by 168 · see citing works
A Genome-Wide Scan of Ashkenazi Jewish Crohn's Disease Suggests Novel Susceptibility Loci
Kenny, E. E., Pe’er, I., Karban, A. A., Ozelius, L. J., Mitchell, A. A., Ng, S. M. E., Erazo, M., D, H. O. M., Abraham, C., Abreu, M. T., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002559 · Cited by 153 · see citing works
A calibrated human Y-chromosomal phylogeny based on resequencingPreprint
Wei, W., Ayub, Q., Chen, Y., McCarthy, S., Hou, Y., Carbone, I., Xue, Y., & Tyler‐Smith, C. (2012) · Genome Research · doi:10.1101/gr.143198.112 · Cited by 147 · see citing works
The population genetics of the Jewish people
D, H. O. M., & Skorecki, K. L. (2012) · Human Genetics · doi:10.1007/s00439-012-1235-6 · Cited by 127 · see citing works
Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population
Bray, S. M., Mullé, J. G., Dodd, A., Pulver, A. E., Wooding, S., & Warren, S. T. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1004381107 · Cited by 120 · see citing works
Genome-wide association study implicates NDST3 in schizophrenia and bipolar disorder
Lencz, T., Guha, S., Liu, C., Rosenfeld, J., Mukherjee, S., DeRosse, P., John, M., Cheng, L., Zhang, C., Badner, J. A., et al. (2013) · Nature Communications · doi:10.1038/ncomms3739 · Cited by 111 · see citing works
Familial aggregation of early‐ and late‐onset Parkinson's disease
Marder, K. S., Levy, G., Louis, E. D., Mejia‐Santana, H., COTE, L. J., Andrews, H., Harris, J. M., Waters, C., Ford, B., Frucht, S. J., et al. (2003) · Annals of Neurology · doi:10.1002/ana.10711 · Cited by 104 · see citing works
Behar, D. M., Garrigan, D., Kaplan, M. E., Mobasher, Z., Rosengarten, D., Karafet, T. M., Quintana‐Murci, L., D, H. O. M., Skorecki, K. L., & Hammer, M. F. (2004) · Human Genetics · doi:10.1007/s00439-003-1073-7 · Cited by 97 · see citing works
Tachmazidou, I., Dedoussis, G. V., Southam, L., Farmaki, A., Ritchie, G. R. S., Xifara, D. K., Matchan, A., Hatzikotoulas, K., Rayner, N. W., Chen, Y., et al. (2013) · Nature Communications · doi:10.1038/ncomms3872 · Cited by 93 · see citing works
The Architecture of Long-Range Haplotypes Shared within and across Populations
Gusev, A., Palamara, P. F., Aponte, G., Zhuang, Z., Darvasi, A., Gregersen, P. K., & Pe’er, I. (2011) · Molecular Biology and Evolution · doi:10.1093/molbev/msr133 · Cited by 93 · see citing works
Genome-Wide Diversity in the Levant Reveals Recent Structuring by Culture
Haber, M., Gauguier, D., Youhanna, S. C., Patterson, N. J., Moorjani, P., Botigué, L. R., Platt, D. E., Matisoo-Smith, E. A., Soria‐Hernanz, D. F., Wells, R. S., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003316 · Cited by 92 · see citing works
Sikora, M., Carpenter, M. L., Moreno‐Estrada, A., Henn, B. M., Underhill, P. A., Sánchez‐Quinto, F., Zara, I., Pitzalis, M., Sidore, C., Busonero, F., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004353 · Cited by 87 · see citing works
Casals, F., Hodgkinson, A., Hussin, J., Idaghdour, Y., Bruat, V., de Maillard, T., Grenier, J., Gbeha, E., Hamdan, F. F., Girard, S., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003815 · Cited by 79 · see citing works
Need, A. C., Kasperavičiūtė, D., Cirulli, E. T., & Goldstein, D. B. (2009) · Genome biology · doi:10.1186/gb-2009-10-1-r7 · Cited by 70 · see citing works
High Risk Population Isolate Reveals Low Frequency Variants Predisposing to Intracranial Aneurysms
Kurki, M., Gaál, E. I., Kettunen, J., Lappalainen, T., Menelaou, A., Anttila, V., Hof, F. N. G. V. ’., zu Fraunberg, M. V. U., Helisalmi, S., Hiltunen, M. O., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004134 · Cited by 62 · see citing works
Kopelman, N. M., Stone, L., Wang, C., Gefel, D., Feldman, M. W., Hillel, J., & Rosenberg, N. A. (2009) · BMC Genetics · doi:10.1186/1471-2156-10-80 · Cited by 51 · see citing works
Implications for health and disease in the genetic signature of the Ashkenazi Jewish population
Guha, S., Rosenfeld, J., Malhotra, A. K., Lee, A. T., Gregersen, P. K., Kane, J. M., Pe’er, I., Darvasi, A., & Lencz, T. (2012) · Genome biology · doi:10.1186/gb-2012-13-1-r2 · Cited by 47 · see citing works
The Variance of Identity-by-Descent Sharing in the Wright–Fisher Model
Carmi, S., Palamara, P. F., Vacic, V., Lencz, T., Darvasi, A., & Pe’er, I. (2012) · Genetics · doi:10.1534/genetics.112.147215 · Cited by 39 · see citing works
Analysis of genetic variation in Ashkenazi Jews by high density SNP genotyping
Olshen, A. B., Gold, B., Lohmueller, K. E., Struewing, J. P., Satagopan, J. M., Stefanov, S. A., Eskin, E., Kirchhoff, T., Lautenberger, J. A., Klein, R. J., et al. (2008) · BMC Genetics · doi:10.1186/1471-2156-9-14 · Cited by 38 · see citing works
Živković, D., & Stephan, W. (2011) · Theoretical Population Biology · doi:10.1016/j.tpb.2011.03.003 · Cited by 37 · see citing works
Moore, B., Hu, H., Singleton, M., Vega, F. M. D. L., Reese, M. G., & Yandell, M. D. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e31820ed321 · Cited by 37 · see citing works
Gusev, A., Shah, M. J., Kenny, E. E., Ramachandran, A., Lowe, J. K., Salit, J., Lee, C.-M., Levandowsky, E., Weaver, T., Doan, Q. C., et al. (2011) · Genetics · doi:10.1534/genetics.111.134874 · Cited by 28 · see citing works
Huffman, D. M., Deelen, J., Ye, K. Q., Bergman, A., Slagboom, P. E., Barzilai, N., & Atzmon, G. (2012) · The Journals of Gerontology Series A · doi:10.1093/gerona/gls103 · Cited by 27 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- Goodman R. M. Genetic Disorders among the Jewish People The Johns Hopkins University Press (1979).
Cited by
Sorted by citations
Environment dominates over host genetics in shaping human gut microbiota
Rothschild, D., Weissbrod, O., Barkan, E., Kurilshikov, A., Korem, T., Zeevi, D., Costea, P. I., Godneva, A., Kalka, I. N., Bar, N., et al. (2018) · Nature · doi:10.1038/nature25973 · Cited by 2,859 · see citing works
Self-citationLarge-scale association analyses identify host factors influencing human gut microbiome composition
Kurilshikov, A., Medina-Gomez, C., Bacigalupe, R., Radjabzadeh, D., Wang, J., Demirkan, A., Le Roy, C. I., Raygoza Garay, J. A., Finnicum, C. T., Liu, X., et al. (2021) · Nature Genetics · doi:10.1038/s41588-020-00763-1 · Cited by 1,786 · see citing works
Hui, K. Y., Fernandez-Hernandez, H., Hu, J., Schaffner, A., Pankratz, N., Hsu, N.-Y., Chuang, L.-S., Carmi, S., Villaverde, N., Li, X., et al. (2018) · Science Translational Medicine · doi:10.1126/scitranslmed.aai7795 · Cited by 384 · see citing works
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
Nagasaki, M., Yasuda, J., Katsuoka, F., Nariai, N., Kojima, K., Kawai, Y., Yamaguchi‐Kabata, Y., Yokozawa, J., Danjoh, I., Saito, S., et al. (2015) · Nature Communications · doi:10.1038/ncomms9018 · Cited by 392 · see citing works
Comprehensive Analysis of Genetic Ancestry and Its Molecular Correlates in Cancer
Carrot‐Zhang, J., Chambwe, N., Damrauer, J. S., Knijnenburg, T., Robertson, A. G., Yau, C. S. F., Zhou, W., Berger, A. C., Huang, K., Newberg, J. Y., et al. (2020) · Cancer Cell · doi:10.1016/j.ccell.2020.04.012 · Cited by 328 · see citing works
Genetics and Pathogenesis of Inflammatory Bowel Disease
Liu, T.-C., & Stappenbeck, T. S. (2016) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-012615-044152 · Cited by 289 · see citing works
Petrovski, S., & Goldstein, D. B. (2016) · Genome Biology · doi:10.1186/s13059-016-1016-y · Cited by 255 · see citing works
Population Stratification in Genetic Association Studies
Hellwege, J. N., Keaton, J. M., Giri, A., Gao, X., Edwards, D. R. V., & Edwards, T. L. (2017) · Current Protocols in Human Genetics · doi:10.1002/cphg.48 · Cited by 211 · see citing works
Do, R., Balick, D. J., Li, H., Adzhubei, I. A., Sunyaev, S. R., & Reich, D. (2015) · Nature Genetics · doi:10.1038/ng.3186 · Cited by 208 · see citing works
DellaPergola, S. (2012) · American Jewish year book · doi:10.1007/978-94-007-5204-7_6 · Cited by 204 · see citing works
Investigative genetic genealogy: Current methods, knowledge and practice
Kling, D., Phillips, C., Kennett, D., & Tillmar, A. O. (2021) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2021.102474 · Cited by 190 · see citing works
Large-scale association analyses identify host factors influencing human gut microbiome compositionPreprint
Kurilshikov, A., Medina‐Gómez, C., Bacigalupe, R., Radjabzadeh, D., Wang, J., Demirkan, A., Roy, C. I. L., Garay, J. A. R., Finnicum, C. T., Liu, X., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.06.26.173724 · Cited by 143 · see citing works
Zhang, P., Luo, H., Li, Y., Wang, Y., Wang, J., Zheng, Y., Niu, Y., Shi, Y., Zhou, H., Song, T., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.110017 · Cited by 119 · see citing works
Screening Human Embryos for Polygenic Traits Has Limited Utility
Karavani, E., Zuk, O., Zeevi, D., Barzilai, N., Stefanis, N. C., Hatzimanolis, A., Smyrnis, N., Avramopoulos, D., Kruglyak, L., Atzmon, G., et al. (2019) · Cell · doi:10.1016/j.cell.2019.10.033 · Cited by 111 · see citing works
Human Disease Variation in the Light of Population Genomics
Prohaska, A., Racimo, F., Schork, A. J., Sikora, M., Stern, A. J., Ilardo, M. A., Allentoft, M. E., Folkersen, L., Buil, A., Moreno-Mayar, J. V., et al. (2019) · Cell · doi:10.1016/j.cell.2019.01.052 · Cited by 108 · see citing works
Simons, Y. B., & Sella, G. (2016) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2016.09.006 · Cited by 103 · see citing works
Clustering of 770,000 genomes reveals post-colonial population structure of North America
Han, E., Carbonetto, P. S., Curtis, R. E., Wang, Y., Granka, J. M., Byrnes, J., Noto, K., Kermany, A. R., Myres, N. M., Barber, M., et al. (2017) · Nature Communications · doi:10.1038/ncomms14238 · Cited by 103 · see citing works
Familial dysautonomia: History, genotype, phenotype and translational research
Norcliffe‐Kaufmann, L., Slaugenhaupt, S. A., & Kaufmann, H. (2016) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2016.06.003 · Cited by 103 · see citing works
Landscape of adenosine-to-inosine RNA recoding across human tissues
Gabay, O., Shoshan, Y., Kopel, E., Ben-Zvi, U., Mann, T. D., Bressler, N., Cohen‐Fultheim, R., Schaffer, A., Roth, S. H., Tzur, Z., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-28841-4 · Cited by 96 · see citing works
The Genomic History of the Bronze Age Southern Levant
Agranat-Tamir, L., Waldman, S., Martin, M. A. S., Gokhman, D., Mishol, N., Eshel, T., Cheronet, O., Rohland, N., Mallick, S., Adamski, N., et al. (2020) · Cell · doi:10.1016/j.cell.2020.04.024 · Cited by 85 · see citing works
Expanded genetic screening panel for the Ashkenazi Jewish population
Baskovich, B. W., Hiraki, S. C., Upadhyay, K., Meyer, P., Carmi, S., Barzilai, N., Darvasi, A., Ozelius, L. J., Peter, I., Cho, J. H., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.123 · Cited by 80 · see citing works
Trinh, J., Gustavsson, E. K., Vilariño‐Güell, C., Bortnick, S., Latourelle, J. C., McKenzie, M. B., Szu‐Tu, C., Nosova, E., Khinda, J., Milnerwood, A. J., et al. (2016) · The Lancet Neurology · doi:10.1016/s1474-4422(16)30203-4 · Cited by 80 · see citing works
Environment dominates over host genetics in shaping human gut microbiota
Rothschild, D., Weissbrod, O., Barkan, E., Kurilshikov, A., Korem, T., Zeevi, D., Costea, P. I., Godneva, A., Kalka, I. N., & Bar, N. (2018) · Yearbook of pediatric endocrinology · doi:10.1530/ey.15.14.5 · Cited by 90 · see citing works
Cognitive capitalism human capital and the wellbeing of nations
Rindermann, H. (2018) · Cited by 77 · see citing works
Tournebize, R., Chu, G., & Moorjani, P. (2022) · PLoS Genetics · doi:10.1371/journal.pgen.1010243 · Cited by 68 · see citing works
Jacob‐Hirsch, J., Eyal, E., Knisbacher, B. A., Roth, J. F., Cesarkas, K., Dor, C., Barhom, S. F., Kunik, V., Simon, A. J., Gal, M., et al. (2018) · Cell Research · doi:10.1038/cr.2018.8 · Cited by 66 · see citing works
Episodes of Diversification and Isolation in Island Southeast Asian and Near Oceanian Male Lineages
Karmin, M., Flores, R., Saag, L., Hudjashov, G., Brucato, N., Darusallam, C. C., Larena, M., Endicott, P., Jakobsson, M., Lansing, J. S., et al. (2022) · Molecular Biology and Evolution · doi:10.1093/molbev/msac045 · Cited by 65 · see citing works
Chuang, L.-S. F., Villaverde, N., Hui, K. Y., Mortha, A., Rahman, A. H., Levine, A. P., Haritunians, T., Ng, S. M. E., Zhang, W. J., Hsu, N.-Y., et al. (2016) · Gastroenterology · doi:10.1053/j.gastro.2016.06.045 · Cited by 65 · see citing works
Family history of cancer, Ashkenazi Jewish ancestry, and pancreatic cancer risk
Hamada, T., Yuan, C., Yurgelun, M. B., Perez, K., Khalaf, N., Morales-Oyarvide, V., Babic, A., Nowak, J. A., Rubinson, D. A., Giannakis, M., et al. (2019) · British Journal of Cancer · doi:10.1038/s41416-019-0426-5 · Cited by 61 · see citing works
Estimating the Genome-wide Mutation Rate with Three-Way Identity by Descent
Tian, X., Browning, B. L., & Browning, S. R. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.09.012 · Cited by 60 · see citing works
Waldman, S., Backenroth, D., Harney, É., Flohr, S., Neff, N. C., Buckley, G. M., Fridman, H., Akbari, A., Rohland, N., Mallick, S., et al. (2022) · Cell · doi:10.1016/j.cell.2022.11.002 · Cited by 63 · see citing works
Genetic Complexity of Crohn’s Disease in Two Large Ashkenazi Jewish Families
Levine, A. P., Pontikos, N., Schiff, E., Jostins, L., Speed, D., Lovat, L. B., Barrett, J. C., Grasberger, H., Plagnol, V., & Segal, A. W. (2016) · Gastroenterology · doi:10.1053/j.gastro.2016.06.040 · Cited by 59 · see citing works
Hereditary Sensory and Autonomic Neuropathies: Adding More to the Classification
Schwartzlow, C., & Kazamel, M. (2019) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-019-0974-3 · Cited by 54 · see citing works
Dissecting the Mechanisms Underlying Unusually Successful Human Health Span and Life SpanPreprint
Milman, S., & Barzilai, N. (2015) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a025098 · Cited by 53 · see citing works
Attacks on genetic privacy via uploads to genealogical databases
Edge, M. D., & Coop, G. (2020) · eLife · doi:10.7554/elife.51810 · Cited by 51 · see citing works
A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer
Vijai, J., Topka, S., Villano, D., Ravichandran, V., Maxwell, K. N., Maria, A., Thomas, T., Gaddam, P., Lincoln, A., Kazzaz, S. A., et al. (2016) · Cancer Discovery · doi:10.1158/2159-8290.cd-16-0487 · Cited by 47 · see citing works
Zhang, L., Walsh, M. F., Jairam, S., Mandelker, D. L., Zhong, Y., Kemel, Y. M., Chen, Y., Musheyev, D., Zehir, A., Jayakumaran, G., et al. (2019) · Human Mutation · doi:10.1002/humu.23900 · Cited by 44 · see citing works
EthSEQ: ethnicity annotation from whole exome sequencing data
Romanel, A., Zhang, T., Elemento, O., & Demichelis, F. (2017) · Bioinformatics · doi:10.1093/bioinformatics/btx165 · Cited by 43 · see citing works
Common germline-somatic variant interactions in advanced urothelial cancer
Vosoughi, A., Zhang, T., Shohdy, K. S., Vlachostergios, P. J., Wilkes, D. C., Bhinder, B., Tagawa, S. T., Nanus, D. M., Molina, A. M., Beltran, H., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-19971-8 · Cited by 40 · see citing works
Date, P., Ackermann, P., Furey, C. G., Fink, I. B., Jonas, S., Khokha, M. K., Kahle, K. T., & Deniz, E. (2019) · Scientific Reports · doi:10.1038/s41598-019-42549-4 · Cited by 40 · see citing works
DellaPergola, S. (2017) · American Jewish year book · doi:10.1007/978-3-319-46122-9_17 · Cited by 38 · see citing works
The time and place of European admixture in Ashkenazi Jewish history
Xue, J. R., Lencz, T., Darvasi, A., Pe’er, I., & Carmi, S. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1006644 · Cited by 39 · see citing works
The Family of Crumbs Genes and Human Disease
Slavotinek, A. M. (2016) · Molecular Syndromology · doi:10.1159/000448109 · Cited by 38 · see citing works
Ethnicity of Patients With Germline GCM2-Activating Variants and Primary Hyperparathyroidism
Guan, B., Welch, J. M., Vemulapalli, M., Li, Y., Ling, H., Kebebew, E., Simonds, W. F., Marx, S. J., & Agarwal, S. K. (2017) · Journal of the Endocrine Society · doi:10.1210/js.2017-00043 · Cited by 37 · see citing works
Hedley, J. D., Russell, B. J., Randolph, K., Pérez-Castro, M. Á., Vásquez‐Elizondo, R. M., Enríquez, S., & Dierssen, H. M. (2017) · Frontiers in Marine Science · doi:10.3389/fmars.2017.00362 · Cited by 36 · see citing works
Studies on patients establish Crohn's disease as a manifestation of impaired innate immunity
Segal, A. W. (2019) · Journal of Internal Medicine · doi:10.1111/joim.12945 · Cited by 35 · see citing works
Cascella, M., Muzio, M. R., Monaco, F., Nocerino, D., Ottaiano, A., Perri, F., & Innamorato, M. A. (2022) · Pathophysiology · doi:10.3390/pathophysiology29030035 · Cited by 34 · see citing works
Brace, S., Diekmann, Y., Booth, T., Macleod, R., Timpson, A., Stephen, W., Emery, G., Cabot, S., Thomas, M., & Barnes, I. (2022) · Current Biology · doi:10.1016/j.cub.2022.08.036 · Cited by 34 · see citing works
Riboldi, G. M., Vialle, R. A., Navarro, E., Udine, E., Lopes, K. D. P., Humphrey, J., Allan, A., Parks, M., Henderson, B., Astudillo, K., et al. (2022) · Molecular Neurodegeneration · doi:10.1186/s13024-022-00554-8 · Cited by 31 · see citing works
Explosive genetic evidence for explosive human population growth
Gao, F., & Keinan, A. (2016) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2016.09.002 · Cited by 30 · see citing works
Genetic Movement Disorders in Patients of Jewish Ancestry
Inzelberg, R., Hassin‐Baer, S., & Jankovic, J. J. (2014) · JAMA Neurology · doi:10.1001/jamaneurol.2014.1364 · Cited by 31 · see citing works
DellaPergola, S. (2022) · American Jewish year book · doi:10.1007/978-3-030-99750-2_8 · Cited by 30 · see citing works
Consanguinity Rates Predict Long Runs of Homozygosity in Jewish Populations
Kang, J. T. L., Goldberg, A., Edge, M. D., Behar, D. M., & Rosenberg, N. A. (2016) · Human Heredity · doi:10.1159/000478897 · Cited by 30 · see citing works
Ethnicity-Based Carrier Screening
King, J. R., & Klugman, S. D. (2018) · Obstetrics and Gynecology Clinics of North America · doi:10.1016/j.ogc.2017.10.010 · Cited by 30 · see citing works
DellaPergola, S. (2019) · American Jewish year book · doi:10.1007/978-3-030-03907-3_8 · Cited by 30 · see citing works
Lencz, T., Yu, J., Khan, R. R., Flaherty, E. K., Carmi, S., Lam, M., Ben‐Avraham, D., Barzilai, N., Bressman, S., Darvasi, A., et al. (2021) · Neuron · doi:10.1016/j.neuron.2021.03.004 · Cited by 29 · see citing works
An ABC Method for Whole-Genome Sequence Data: Inferring Paleolithic and Neolithic Human Expansions
Jay, F., Boitard, S., & Austerlitz, F. (2019) · Molecular Biology and Evolution · doi:10.1093/molbev/msz038 · Cited by 29 · see citing works
Improving variant calling using population data and deep learning
Chen, N.-C., Kolesnikov, A., Goel, S., Yun, T., Chang, P.-C., & Carroll, A. W. (2023) · BMC Bioinformatics · doi:10.1186/s12859-023-05294-0 · Cited by 27 · see citing works
Imputation accuracy across global human populations
Cahoon, J. L., Rui, X., Tang, E., Simons, C., Langie, J., Chen, M., Lo, Y.-C., & Chiang, C. W. K. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2024.03.011 · Cited by 23 · see citing works
Religiosity as a predictor of in-group favoritism within and between religious groups
Dunkel, C., & Dutton, E. (2016) · Personality and Individual Differences · doi:10.1016/j.paid.2016.04.063 · Cited by 22 · see citing works
Comprehensive overview of the pharmacogenetic diversity in Ashkenazi Jews
Zhou, Y., & Lauschke, V. M. (2018) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2018-105429 · Cited by 27 · see citing works
DellaPergola, S. (2016) · American Jewish year book · doi:10.1007/978-3-319-24505-8_7 · Cited by 26 · see citing works
Lopes, F. L., Hou, L., Boldt, A. B. W., Kassem, L., Alves, V. D. M., Nardi, A. E., & McMahon, F. J. (2016) · Human Biology · doi:10.13110/humanbiology.88.2.0109 · Cited by 25 · see citing works
DellaPergola, S. (2022) · American Jewish year book · doi:10.1007/978-3-030-78706-6_7 · Cited by 25 · see citing works
Expanding the phenotype of CRB2 mutations – A new ciliopathy syndrome?
Jaron, R., Rosenfeld, N., Zahdeh, F., Carmi, S., Beni‐Adani, L., Doviner, V., Picard, E., Segel, R., Zeligson, S., Carmel, L., et al. (2016) · Clinical Genetics · doi:10.1111/cge.12764 · Cited by 24 · see citing works
Making sense of the cause of Crohn’s – a new look at an old disease
Segal, A. W. (2016) · F1000Research · doi:10.12688/f1000research.9699.2 · Cited by 24 · see citing works
DellaPergola, S. (2014) · American Jewish year book · doi:10.1007/978-3-319-09623-0_19 · Cited by 24 · see citing works
Chapter 7 World Jewish Population, 2022
DellaPergola, S. (2023) · American Jewish year book · doi:10.1007/978-3-031-33406-1_7 · Cited by 23 · see citing works
Decoding Genetics, Ancestry, and Geospatial Context for Precision HealthPreprint
Koyama, S., Wang, Y., Paruchuri, K., Uddin, M. M., Cho, S. M. J., Urbut, S., Haidermota, S., Hornsby, W., Green, R. C., Daly, M. J., et al. (2023) · medRxiv · doi:10.1101/2023.10.24.23297096 · Cited by 23 · see citing works
The genetic variation in the R1a clade among the Ashkenazi Levites’ Y chromosome
Behar, D. M., Saag, L., Karmin, M., Gover, M. G., Wexler, J. D., Sanchez, L. F., Greenspan, E., Kushniarevich, A., Davydenko, O. G., Sahakyan, H., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-14761-7 · Cited by 21 · see citing works
Lencz, T., Yu, J., Palmer, C. D., Carmi, S., Ben‐Avraham, D., Barzilai, N., Bressman, S., Darvasi, A., Cho, J. H., Clark, L. N., et al. (2018) · Human Genetics · doi:10.1007/s00439-018-1886-z · Cited by 21 · see citing works
DellaPergola, S. (2020) · American Jewish year book · doi:10.1007/978-3-030-40371-3_8 · Cited by 21 · see citing works
DellaPergola, S. (2018) · American Jewish year book · doi:10.1007/978-3-319-70663-4_7 · Cited by 21 · see citing works
GREM1 germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer
Laitman, Y., Jaeger, E., Katz, L. H., Tomlinson, I. P. M., & Friedman, E. (2015) · Genetics Research · doi:10.1017/s0016672315000105 · Cited by 20 · see citing works
Genetic affinities of the Jewish populations of India
Chaubey, G., Singh, M., Rai, N., Kariappa, M., Singh, K., Singh, A. K., Singh, D. P., Tamang, R., Rani, D. S., Reddy, A. G., et al. (2016) · Scientific Reports · doi:10.1038/srep19166 · Cited by 19 · see citing works
Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia
Cheney, A. M., Costello, S. M., Pinkham, N. V., Waldum, A., Broadaway, S. C., Cotrina-Vidal, M. L., Mergy, M. A., Tripet, B., Kominsky, D. J., Grifka‐Walk, H. M., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-35787-8 · Cited by 17 · see citing works
A population-specific reference panel empowers genetic studies of Anabaptist populations
Hou, L., Kember, R. L., Roach, J. C., O’Connell, J. R., Craig, D. W., Bućan, M., Scott, W. K., Pericak‐Vance, M. A., Haines, J. L., Crawford, M. H., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-05445-3 · Cited by 18 · see citing works
Crohn’s Disease Susceptibility and Onset Are Strongly Related to Three NOD2 Gene Haplotypes
Kaczmarek-Ryś, M., Hryhorowicz, S., Lis, E., Banasiewicz, T., Paszkowski, J., Borejsza‐Wysocki, M., Walkowiak, J., Cichy, W., Krokowicz, P., Czkwianianc, E., et al. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10173777 · Cited by 18 · see citing works
Pancreatic cancer pathology viewed in the light of evolution
Noë, M., Hong, S., Wood, L. D., Thompson, E. D., Roberts, N. J., Goggins, M., Klein, A. P., Eshleman, J. R., Kern, S. E., & Hruban, R. H. (2021) · Cancer and Metastasis Reviews · doi:10.1007/s10555-020-09953-z · Cited by 17 · see citing works
Tadmor, T., Liphshitz, I., SILVERMAN, B. G., & Polliack, A. (2016) · Hematological Oncology · doi:10.1002/hon.2302 · Cited by 16 · see citing works
DellaPergola, S. (2024) · American Jewish year book · doi:10.1007/978-3-031-67478-5_8 · Cited by 15 · see citing works
Personalized genealogical history of UK individuals inferred from biobank-scale IBD segments
Naseri, A., Tang, K., Geng, X., Shi, J., Zhang, J., Shakya, P., Liu, X., Zhang, S., & Zhi, D. (2021) · BMC Biology · doi:10.1186/s12915-021-00964-y · Cited by 15 · see citing works
A New Look at Familial Risk of Inflammatory Bowel Disease in the Ashkenazi Jewish Population
Schiff, E., Frampton, M., Semplici, F., Bloom, S. L., McCartney, S. A., Vega, R., Lovat, L. B., Wood, E., Hart, A. L., Crespi, D., et al. (2018) · Digestive Diseases and Sciences · doi:10.1007/s10620-018-5219-9 · Cited by 15 · see citing works
Discovering Biological Mechanisms of Exceptional Human Health Span and Life SpanPreprint
Milman, S., & Barzilai, N. (2023) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a041204 · Cited by 14 · see citing works
Identifying disease-causing mutations in genomes of single patients by computational approaches
Bayrak, Ç. S., & Itan, Y. (2020) · Human Genetics · doi:10.1007/s00439-020-02179-7 · Cited by 13 · see citing works
Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease
Ben-Yosef, N., Frampton, M., Schiff, E., Daher, S., Baker, F. A., Safadi, R., Israeli, E., Segal, A. W., & Levine, A. P. (2021) · Gastroenterology report · doi:10.1093/gastro/goab007 · Cited by 13 · see citing works
Syphilis in an Italian medieval jewish community: A bioarchaeological and cultural perspective
Pietrobelli, A., Mariotti, V. M., Fusari, S., Gasparini, A., Bettuzzi, M., Morigi, M. P., & Belcastro, M. G. (2020) · International Journal of Paleopathology · doi:10.1016/j.ijpp.2020.06.001 · Cited by 12 · see citing works
Genetic contribution to multiple sclerosis risk among Ashkenazi Jews
Khankhanian, P., Matsushita, T., Madireddy, L., Lizée, A., Din, L., Moré, J. M., Gourraud, P., Hauser, S. L., Baranzini, S. E., & Oksenberg, J. R. (2015) · BMC Medical Genetics · doi:10.1186/s12881-015-0201-2 · Cited by 12 · see citing works
Granot‐Hershkovitz, E., Karasik, D., Friedlander, Y., Rodriguez‐Murillo, L., Dorajoo, R., Liu, J., Sewda, A., Peter, I., Carmi, S., & Hochner, H. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-018-0230-3 · Cited by 12 · see citing works
Gutman, D., Lidzbarsky, G. A., Milman, S., Gao, T., Sin‐Chan, P., Gonzaga-Jauregui, C. G., Deelen, J., Shuldiner, A. R., Barzilai, N., & Atzmon, G. (2020) · Aging Cell · doi:10.1111/acel.13216 · Cited by 12 · see citing works
The genetic history of Cochin Jews from India
Waldman, Y. Y., Biddanda, A., Dubrovsky, M., Campbell, C. L., Oddoux, C., Friedman, E., Atzmon, G., Halperin, E., D, H. O. M., & Keinan, A. (2016) · Human Genetics · doi:10.1007/s00439-016-1698-y · Cited by 12 · see citing works
Multi-Modality Machine Learning Predicting Parkinson’s DiseasePreprint
Makarious, M. B., Leonard, H. L., Vitale, D., Iwaki, H., Sargent, L. J., Dadu, A., Violich, I., Hutchins, E. D., Saffo, D., Bandrés‐Ciga, S., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.03.05.434104 · Cited by 12 · see citing works
Genetics and context for precision health in Greater Boston
Koyama, S., Wang, Y., Paruchuri, K., Uddin, M. M., Cho, S. M. J., Urbut, S., Sui, Y., Fahed, A. C., Kamineni, H., Haidermota, S., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-66598-8 · Cited by 36 · see citing works
GeMSTONE: orchestrated prioritization of human germline mutations in the cloud
Chen, S., Beltrán, J. F., Esteban-Jurado, C., Franch‐Expósito, S., Castellvı́-Bel, S., Lipkin, S. M., Wei, X., & Yu, H. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx398 · Cited by 9 · see citing works
Pathak, A. K., Simonian, H., Ibrahim, I. A. A., Hrechdakian, P., Behar, D. M., Ayub, Q., Arsanov, P., Metspalu, E., Yepiskoposyan, L., Rootsi, S., et al. (2024) · iScience · doi:10.1016/j.isci.2024.110016 · Cited by 10 · see citing works
Notes toward a Demographic History of the Jews
DellaPergola, S. (2023) · Genealogy · doi:10.3390/genealogy8010002 · Cited by 10 · see citing works
Freudenberg‐Hua, Y., Li, W., Abhyankar, A., Vacic, V., Côrtes, V. R. P., Ben‐Avraham, D., Koppel, J. L., GREENWALD, B. S., Germer, S., Darnell, R. B., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw150 · Cited by 10 · see citing works
Substructured Population Growth in the Ashkenazi Jews Inferred with Approximate Bayesian Computation
Gladstein, A. L., & Hammer, M. F. (2019) · Molecular Biology and Evolution · doi:10.1093/molbev/msz047 · Cited by 10 · see citing works
Genetic markers cannot determine Jewish descent
Falk, R. (2015) · Frontiers in Genetics · doi:10.3389/fgene.2014.00462 · Cited by 10 · see citing works
Mathias, P. C., Turner, E. H., Scroggins, S. M., Salipante, S. J., Hoffman, N. G., Pritchard, C. C., & Shirts, B. H. (2016) · American Journal of Clinical Pathology · doi:10.1093/ajcp/aqv098 · Cited by 10 · see citing works
- Authors
- Carmi, S., Hui, K. Y., Kochav, E., Liu, X., Xue, J., Grady, F., Guha, S., Upadhyay, K., Ben-Avraham, D., Mukherjee, S., Bowen, B. M., Thomas, T., Vijai, J., Cruts, M., Froyen, G., Lambrechts, D., Plaisance, S., Van Broeckhoven, C., Van Damme, P., Van Marck, H., Barzilai, N., Darvasi, A., Offit, K., Bressman, S., Ozelius, L. J., Peter, I., Cho, J. H., Ostrer, H., Atzmon, G., Clark, L. N., Lencz, T., & Pe’er, I.
- Affiliations
- Columbia University (US)
- Yale University (US)
- Columbia University Irving Medical Center (US)
- Northwell Health (US)
- Albert Einstein College of Medicine (US)
- Memorial Sloan Kettering Cancer Center (US)
- University of Antwerp (BE)
- KU Leuven (BE)
- Vlaams Instituut voor Biotechnologie (BE)
- Hebrew University of Jerusalem (IL)
- Mount Sinai Beth Israel (US)
- Icahn School of Medicine at Mount Sinai (US)
- Corresponding author
- Lencz, Todd
- Pe’er, Itsik
- ORCID
- Carmi, Shai
- Hui, Ken Y.
- Liu, Xinmin
- Xue, James
- Grady, Fillan
- Guha, Saurav
- Upadhyay, Kinnari
- Mukherjee, Semanti
- Bowen, B. Monica
- Thomas, Tinu
- Vijai, Joseph
- Cruts, Marc
- Froyen, Guy
- Lambrechts, Diether
- Plaisance, Stéphane
- Barzilai, Nir
- Offit, Kenneth
- Bressman, Susan
- Ozelius, Laurie J.
- Peter, Inga
- Cho, Judy H.
- Atzmon, Gil
- Clark, Lorraine N.
- Lencz, Todd
- Pe’er, Itsik
- Venue
- Nature Communications
- Published
- 2014-09-09
- Volume
- 5
- Issue
- 1
- Pages
- 4835-4835
- ISSN
- 2041-1723 (ISSN-L)
- PMC
- PMC4164776
- OpenAlex
- W2083870677
- Cited by
- 188
- References
- 66
- Citations by year
- 2026: 8 · 2025: 10 · 2024: 13 · 2023: 12 · 2022: 21 · 2021: 16 · 2020: 17 · 2019: 16 · 2018: 14 · 2017: 18 · 2016: 31 · 2015: 9 · 2014: 2 · 2012: 1
- FWCI
- 13.10
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Nature Communications (publishedVersion, cc-by-nc-sa)
- PubMed Central (publishedVersion, cc-by-nc-sa)
- PubMed (publishedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion, cc-by-nc-sa)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- National Science Foundation (08929882, 0845677)
- Parkinson's Disease Foundation
- National Institutes of Health (5r01dk092235-06, UL1TR001073, CA121852, AG027734, DK62429)
- National Institute on Aging (R01AG042188, P01AG021654, AG-021654, AG027734, P01AG027734, AG042188, T32AG023475)
- National Institute of Mental Health (R01MH095458, RC2MH089964, MH089964, MH084098, R01MH084098, MH095458)
- National Cancer Institute (U54CA121852, CA121852., P30CA008748)
- National Institute of General Medical Sciences (GM007205, T32GM007205)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK092235, R01-DK092235, F30DK098927, DK062422, DK098927, DK62429, U01DK062429, U24DK062429, U01DK062422)
- National Institute of Neurological Disorders and Stroke (R21NS050487, NS050487, R01NS060113, NS060113)
- National Center for Advancing Translational Sciences
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
- Keywords
- Ashkenazi Jews, reference panel, complete genome sequence, population genetics, genetic isolation, population bottleneck, admixture, European ancestry, Middle Eastern ancestry, allele frequency spectrum, imputation accuracy, variant filtering, personal genomics, demographic history, Last Glacial Maximum
- MeSH terms
- Adult, Aged, Aged, 80 and over, Female, Gene Frequency, Genetics, Population, Humans, Jews, Male, Middle Aged, Genetic Variation, Genome, Sequence Analysis, DNA, Polymorphism, Single Nucleotide, Genomics, White People, Metagenomics, Healthy Volunteers
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
