Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

Carmi, Shai, Hui, Ken Y., Kochav, Ethan, Liu, Xinmin, Xue, James, Grady, Fillan, Guha, Saurav, Upadhyay, Kinnari +24 more·2014·Nature Communications
DOI 10.1038/ncomms5835

Cited by (188)

Items 101–188 of 188

  1. Differential analysis of mutations in the Jewish population and their implications for diseases
    Yaron Einhorn, Daphna Weissglas‐Volkov, Shai Carmi, Harry Ostrer M. D, Eitan Friedman, Noam Shomron · 2017 · Genetics Research
  2. Genome wide association study and genomic risk prediction of age related macular degeneration in Israel
    Michelle A. Grunin, Daria Triffon, Gala Beykin, Elior Rahmani, Regev Schweiger, Liran Tiosano, Samer Khateb, Shira Hagbi-Levi, Batya Rinsky, Refael Munitz et al. · 2024 · Scientific Reports
  3. Association of a Variant in VWA3A with Response to Anti-Vascular Endothelial Growth Factor Treatment in Neovascular AMD
    Michelle A. Grunin, Gala Beykin, Elior Rahmani, Regev Schweiger, Gal Barel, Shira Hagbi-Levi, Sarah Elbaz-Hayoun, Batya Rinsky, Michal Ganiel, Shai Carmi et al. · 2020 · Investigative Ophthalmology & Visual Science
  4. Searching for parent-of-origin effects on cardiometabolic traits in imprinted genomic regions
    Einat Granot‐Hershkovitz, Peitao Wu, David Karasik, Inga Peter, Gina Marie Peloso, Daniel A Levy, Ramachandran Srini Vasan, L. Adrienne Cupples, Ching‐Ti Liu, James B. Meigs et al. · 2020 · European Journal of Human Genetics
  5. Why most Principal Component Analyses (PCA) in population genetic studies are wrong
    Eran Elhaik · 2021 · bioRxiv (Cold Spring Harbor Laboratory)
  6. An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access
    Amy V. Jones, Darin Curtiss, Claire Louise Harris, Tom Southerington, Marco Hautalahti, Pauli Wihuri, Johanna Mäkelä, Roosa Kallionpää, Enni Makkonen, Theresa Knopp et al. · 2022 · PLoS ONE
  7. Jews and Non-Territorial Autonomy: Political Programmes and Historical Perspectives
    Roni Gechtman · 2015 · Ethnopolitics
  8. Choices, attitudes, and experiences of genetic screening in Latino/a and Ashkenazi Jewish individuals
    Anne E. Reed-Weston, Aileen Espinal, Bianca Hasar, Codruta C. Chiuzan, Gabriel A. Lazarin, Chunhua Weng, Paul S. Appelbaum, Wendy K. Chung, Julia Wynn · 2020 · Journal of Community Genetics
  9. In Search of the jüdische Typus: A Proposed Benchmark to Test the Genetic Basis of Jewishness Challenges Notions of “Jewish Biomarkers”
    Eran Elhaik · 2016 · Frontiers in Genetics
  10. Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease
    Elena Schiff, M. Frampton, Noam Ben-Yosef, Brandon E. Avila, Francesca Semplici, Nikolas Pontikos, Stuart L Bloom, Sara A McCartney, Roser Vega, Laurence B. Lovat et al. · 2018 · Human Genetics
  11. Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts
    David A. Zeevi, Wendy K. Chung, Chaim Levi, Sholem Y. Scher, Rachel Bringer, Yael Kahan, Hagit Muallem, Rinat Benel, Yoel Hirsch, Tzvi Weiden et al. · 2021 · Molecular Genetics & Genomic Medicine
  12. Robust Inference of Identity by Descent from Exome-Sequencing Data
    Wenqing Fu, Sharon R. Browning, Brian L. Browning, Joshua M. Akey · 2016 · The American Journal of Human Genetics
  13. Regionally enriched rare deleterious exonic variants in the UK and Ireland
    Mihail R. Halachev, Viktoria‐Eleni Gountouna, Alison M. Meynert, Gannie Tzoneva, Alan R. Shuldiner, Colin A M Semple, James F. Wilson · 2024 · Nature Communications
  14. Off the street phasing (OTSP): no hassle haplotype phasing for molecular PGD applications
    David A. Zeevi, Fouad Zahdeh, Yehuda Kling, Shai Carmi, Gheona Altarescu · 2019 · Journal of Assisted Reproduction and Genetics
  15. Impact of Sixteen Established Pancreatic Cancer Susceptibility Loci in American Jews
    Samantha A. Streicher, Alison P. Klein, Sara H. Olson, Laufey Thora Amundadottir, Andrew Thomas DeWan, Hongyu Zhao, Harvey A. Risch · 2017 · Cancer Epidemiology Biomarkers & Prevention
  16. THE STUDY OF LONGEVITY: RECENT UPDATES AND FURTHER DIRECTION. PART 1
    Yu. V. Kotovskaya, О. N. Tkacheva, Н. К. Рунихина, Daria A. Kashtanova, Sergey Anatol'evich Boytsov · 2017 · CARDIOVASCULAR THERAPY AND PREVENTION
  17. An Ashkenazi founder mutation in the PKHD1 gene
    Adina Quint, Michal Sagi, Shai Carmi, Hagit Daum, Michal Macarov, Ziva Ben Neriah, Vardiela Meiner, Orly N Elpeleg, Israela Lerer · 2015 · European Journal of Medical Genetics
  18. Multiple-testing corrections in selection scans using identity-by-descent segments
    Seth D Temple, Sharon R. Browning · 2025 · The American Journal of Human Genetics
  19. Tracing human genetic histories and natural selection with precise local ancestry inference
    Jon Lerga-Jaso, Biljana Novković, Deepu Unnikrishnan, Varuna Bamunusinghe, Marcelinus R. Hatorangan, Charlie Manson, Haley Pedersen, Alex Osama, Andrew Terpolovsky, Sandra Bohn et al. · 2025 · Nature Communications
  20. Was ADH1B under Selection in European Populations?
    Quan‐Kuan Shen, Xierzhatijiang Sulaiman, Yong‐Gang Yao, Min‐Sheng Peng, Ya‐Ping Zhang · 2016 · The American Journal of Human Genetics
  21. The Geography of Jewish Ethnogenesis
    Aram Yardumian, Theodore G. Schurr · 2019 · Journal of Anthropological Research
  22. Genetic Basis of Delayed Hypersensitivity Reactions to Drugs in Jewish and Arab Populations
    Mohammed Aboukaoud, Shoshana Israel, Chaim Brautbar, Sara Eyal · 2018 · Pharmaceutical Research
  23. Analysis of the genetic basis of height in large Jewish nuclear families
    Danny Zeevi, Joshua S. Bloom, Meru J. Sadhu, Adi Ben Yehuda, David Zangen, Ephrat Levy‐Lahad, Leonid Kruglyak · 2019 · PLoS Genetics
  24. Insights into the genetic epidemiology of Crohn’s and rare diseases in the Ashkenazi Jewish population
    Manuel A. Rivas, Jukka T. Koskela, Hailiang Huang, Christine R. Stevens, Brandon E. Avila, Talin Haritunians, Benjamin M. Neale, Mitja Kurki, Andrea Ganna, Daniel B. Graham et al. · 2016 · bioRxiv (Cold Spring Harbor Laboratory)
  25. Diverse genetic origins of medieval steppe nomad conquerors
    Alexander S. Mikheyev, Lijun Qiu, А. А. Зарубин, Nikita Moshkov, Yuriy Lvovich Orlov, Duane R. Chartier, И. В. Корниенко, Tatiana G. Faleeva, Vladimir Klyuchnikov, Elena Batieva et al. · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
  26. Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
    Hagai Levi, Shai Carmi, Saharon Rosset, Rinat Yerushalmi, Aviad Zick, Tamar Yablonski‐Peretz, Qin Wang, Manjeet K. Bolla, Joe Dennis, Kyriaki Michailidou et al. · 2023 · Journal of Medical Genetics
  27. Fine-scale genetic structure and rare variant frequencies
    Laurence Gagnon, Claudia Moreau, Catherine Laprise, Simon Girard · 2024 · PLoS ONE
  28. A pooled genome-wide association study identifies pancreatic cancer susceptibility loci on chromosome 19p12 and 19p13.3 in the full-Jewish population
    Samantha A. Streicher, Alison P. Klein, Sara H. Olson, Robert C. Kurtz, Laufey Thora Amundadottir, Andrew Thomas DeWan, Hongyu Zhao, Harvey A. Risch · 2020 · Human Genetics
  29. Health care utilization of fine-scale identity by descent clusters in a Los Angeles biobank
    Christa Caggiano, Arya Boudaie, Ruhollah Shemirani, Ella Petter, Alec M. Chiu, Ruth Johnson, Defne Ercelen, Bogdan Paşaniuc, Eimear E. Kenny, Jonathan Shortt et al. · 2022 · medRxiv
  30. Decomposition of Individual SNP Patterns from Mixed DNA Samples
    Gabriel Azhari, Shamam Waldman, Netanel Ofer, Yosi Keller, Shai Carmi, Gur Yaari · 2022 · Forensic Sciences
  31. The predictive capacity of polygenic risk scores for disease risk is only moderately influenced by imputation panels tailored to the target population
    Hagai Levi, Ran Elkon, Ron Shamir A · 2024 · Bioinformatics
  32. Distinguishing between founder and host population mtDNA lineages in the Ashkenazi population
    Joseph Livni, Karl L. Skorecki · 2025 · Human Gene
  33. Rapidly Registering Identity-by-Descent Across Ancestral Recombination Graphs
    Shuo Yang, Shai Carmi, Itsik Pe’er · 2016 · Journal of Computational Biology
  34. Obesity risk in young adults from the Jerusalem Perinatal Study (JPS): the contribution of polygenic risk and early life exposure
    Hagit Hochner, Rachely Butterman, Ido Margaliot, Yechiel Friedlander, Michal Linial B · 2024 · International Journal of Obesity
  35. Accurate haplotype imputation with individualized ancestry-adjusted reference panels
    Qing Song, Wei Xu, Wenzhi Li, Shaohua He, Jiankang Liu, Guangming Wang, Li Ma · 2017 · Genomics
  36. The challenges of maintaining genetic privacy
    Shai Carmi · 2020 · eLife
  37. Haplotype analysis of α-thalassemia chromosomes reveals heterogeneity and multiple founders in Ashkenazi Jews
    Adir Shaulov, Dvora Filon, Deborah G. Rund · 2016 · European Journal of Medical Genetics
  38. Reviews of Science for Science Librarians: Direct-to-Consumer DNA Testing for Ancestry as a Complement to Traditional Genealogical Methods
    Tony Stankus · 2020 · Science & Technology Libraries
  39. Population Genetics of the A shkenazim
    Ariella L. Gladstein, Michael F. Hammer · 2016 · Encyclopedia of Life Sciences
  40. Science, identity and the law: Intersecting conceptualization and operationalization of race and ethnicity
    András László Pap, Eszter Kovács Szitkay · 2023 · Sociétés plurielles
  41. Genetic Health
    Marius Geantă, Адріана Боата, Bianca Cucoş, Cosmina Cioroboiu, Ramona Popescu · 2024 · Springer eBooks
  42. Does Mitochondrial DNA T2e1 Reflect Traces of Judaism on the “Down-Low”?
    Felice L. Bedford · 2018 · Journal of Phylogenetics & Evolutionary Biology
  43. Global Picture of Genetic Relatedness and the Evolution of Humankind
    Gennady V. Khvorykh, Oleh Alex Mulyar, Larisa V. Fedorova, Хрунин Андрей Владимирович, Svetlana A. Limborska, Alexei Fedorov · 2020 · Biology
  44. Discovery and reporting of clinically-relevant germline variants in advanced cancer patients assessed using whole-exome sequencing
    Tuo Zhang, Alessandro Romanel, Kenneth Eng, Hanna Rennert, Adrian Y. Tan, Yaohua Xue, Joanna Cyrta, Juan Miguel Mosquera, Andrea Sboner, Ivan H. Iossifov et al. · 2017 · bioRxiv (Cold Spring Harbor Laboratory)
  45. Improving variant calling using population data and deep learning
    Nae-Chyun Chen, Alexey Kolesnikov, Sidharth Goel, Taedong Yun, Pi-Chuan Chang, Andrew W. Carroll · 2021 · bioRxiv (Cold Spring Harbor Laboratory)
  46. Whole‐exome sequencing for genetic screening in high‐risk populations: Insights from consanguineous Palestinian families
    Tamer Hodrob, Alaaeddin Abusalameh, Ibrahim Ismail, Bayan Awesat, Marah Deeb, Duha Maslamani, Rinad Shweiki, Dareen Njoom, Nadirah S. Damseh · 2025 · Journal of Genetic Counseling
  47. Interpretation of findings of founder population genetics studies applying lineage extinction theory
    Haim Livni, Joseph Livni · 2016 · Physica A Statistical Mechanics and its Applications
  48. The Mystery of Intelligence
    Norbert Jaušovec, Anja Pahor · 2017 · Elsevier eBooks
  49. White Skin Privilege: Modern Myth, Forgotten Past
    Peter Fröst · 2020 · Evolutionary Studies in Imaginative Culture
  50. Editorial: Population Genetics of Worldwide Jewish People
    Eran Elhaik · 2017 · Frontiers in Genetics
  51. Obesity Prediction in Young Adults from the Jerusalem Perinatal Study: Contribution of Polygenic Risk and Early Life Exposures
    Hagit Hochner, Rachely Butterman, Ido Margaliot, Yechiel Friedlander, Michal Linial B · 2023 · medRxiv
  52. Retracing Human Genetic Histories and Natural Selection Using Precise Local Ancestry Inference
    Jon Lerga-Jaso, Biljana Novković, Deepu Unnikrishnan, Varuna Bamunusinghe, Marcelinus R. Hatorangan, Charlie Manson, Haley Pedersen, Alex Osama, Andrew Terpolovsky, Sandra Bohn et al. · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
  53. Integrated Stress Response Signatures Drive Monocyte Dysfunction in GBA1 - and LRRK2 -Linked Parkinson’s Disease
    Daniele Mattei, Erica Brophy, Mikaela Rosén, Oriol Narcis Majos, Aloysius Domingo, Elena Meijia, Claudia De Sanctis, Beomjin Jang, Tarek Khashan, Mengxi Yang et al. · 2025 · medRxiv
  54. Genetic Basis of Early Repolarization Syndrome
    Minoru Horie, Keiko Sonoda, Seiko Ohno · 2016 · Springer eBooks
  55. From Jewish Verbal and General Intelligence to Jewish Achievement: A Doubly Right Wing Issue
    Sascha Vongehr · 2016 · viXra
  56. From DNA to Politics
    Raphael Falk · 2017 · History, philosophy and theory of the life sciences
  57. Decomposition of Individual SNP Patterns From Mixed DNA Samples
    Gabriel Azhari, Shamam Waldman, Netanel Ofer, Yosi Keller, Shai Carmi, Gur Yaari · 2021 · Research Square
  58. A Troublesome Subject – Exploring the possible connection between intelligence and Parkinson’s and Alzheimer's diseases
    James M. Gruschus · 2021 · Elsevier eBooks
  59. Reading Genetic Material
    Röbbe Wünschiers · 2021 · Springer eBooks
  60. Erbgut lesen
    Röbbe Wünschiers · 2019 · Springer eBooks
  61. Human genetics: A tale of two historical Jewish communities
    Carles Lalueza‐Fox · 2022 · Current Biology
  62. 2023 ASHG Lifetime Achievement Award: “If you want to go fast, go alone; if you want to go far, go together”
    NEIL J. RISCH · 2024 · The American Journal of Human Genetics
  63. Heritability of complex traits in sub-populations experiencing bottlenecks and growth
    Cameron S. Taylor, Daniel John Lawson · 2024 · Journal of Human Genetics
  64. Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry
    Hannah Llorin, Ruth I. Tennen, Sarah B. Laskey, Jianan Zhan, Stacey Detweiler, Noura S. Abul‐Husn · 2024 · Genetics in Medicine Open
  65. Judaism
    Joseph H. Manson · 2024 · Springer eBooks
  66. Genetic determinants of prostate cancer predisposition in Ashkenazi Jews
    Gianpaolo Perletti, Daniel Cohen Hattab, Sergio DellaPergola, Ofer Nathan Gofrit, Vittorio Magri, Alberto Trinchieri · 2025 · Archivio Italiano di Urologia e Andrologia
  67. Transcriptome-wide association studies implicate RCC1 and PHACTR4 in prostate cancer survival
    Weijia Fu, Joseph H. Rothstein, Olle Melander, Hans G. Lilja, Weiva Sieh, Xiaoyu Song, Robert J. Klein · 2026 · European Journal of Human Genetics
  68. Commentary on Livni & Skorecki, “Distinguishing between Founder and Host Population mtDNA Lineages in the Ashkenazi Population”
    Joseph Faith · 2025 · Human Gene
  69. Response to commentary on Livni & Skorecki, “Distinguishing between founder and host population mtDNA lineages in the Ashkenazi population”
    Joseph Livni, Karl L. Skorecki · 2025 · Human Gene
  70. Additional file 5 of Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson’s disease
    Giulietta Maria Riboldi, Ricardo A. Vialle, Elisa Navarro, Evan Udine, de Paiva Lopes, Katia, Jack Humphrey, Amanda Allan, Madison Parks, Brooklyn Henderson, Kelly Astudillo et al. · 2022 · Figshare
  71. Additional file 7 of Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson’s disease
    Giulietta Maria Riboldi, Ricardo A. Vialle, Elisa Navarro, Evan Udine, de Paiva Lopes, Katia, Jack Humphrey, Amanda Allan, Madison Parks, Brooklyn Henderson, Kelly Astudillo et al. · 2022 · Figshare
  72. Additional file 1 of Personalized genealogical history of UK individuals inferred from biobank-scale IBD segments
    Ardalan Naseri, Kecong Tang, Geng, Xin, Shi, Junjie, Zhang, Jing, Pramesh Shakya, Liu, Xiaoming, Zhang, Shaojie, Degui Zhi · 2021 · Figshare
  73. Additional file 4 of Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson’s disease
    Giulietta Maria Riboldi, Ricardo A. Vialle, Elisa Navarro, Evan Udine, de Paiva Lopes, Katia, Jack Humphrey, Amanda Allan, Madison Parks, Brooklyn Henderson, Kelly Astudillo et al. · 2022 · Figshare
  74. Additional file 6 of Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson’s disease
    Giulietta Maria Riboldi, Ricardo A. Vialle, Elisa Navarro, Evan Udine, de Paiva Lopes, Katia, Jack Humphrey, Amanda Allan, Madison Parks, Brooklyn Henderson, Kelly Astudillo et al. · 2022 · Figshare
  75. Additional file 2 of Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson’s disease
    Giulietta Maria Riboldi, Ricardo A. Vialle, Elisa Navarro, Evan Udine, de Paiva Lopes, Katia, Jack Humphrey, Amanda Allan, Madison Parks, Brooklyn Henderson, Kelly Astudillo et al. · 2022 · Figshare
  76. Additional file 8 of Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson’s disease
    Giulietta Maria Riboldi, Ricardo A. Vialle, Elisa Navarro, Evan Udine, de Paiva Lopes, Katia, Jack Humphrey, Amanda Allan, Madison Parks, Brooklyn Henderson, Kelly Astudillo et al. · 2022 · Figshare
  77. Additional file 1 of Improving variant calling using population data and deep learning
    Chen, Nae-Chyun, Kolesnikov, Alexey, Sidharth Goel, Taedong Yun, Pi-Chuan Chang, Andrew W. Carroll · 2023 · Figshare
  78. Additional file 3 of Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson’s disease
    Giulietta Maria Riboldi, Ricardo A. Vialle, Elisa Navarro, Evan Udine, de Paiva Lopes, Katia, Jack Humphrey, Amanda Allan, Madison Parks, Brooklyn Henderson, Kelly Astudillo et al. · 2022 · Figshare
  79. Additional file 1 of Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson’s disease
    Giulietta Maria Riboldi, Ricardo A. Vialle, Elisa Navarro, Evan Udine, de Paiva Lopes, Katia, Jack Humphrey, Amanda Allan, Madison Parks, Brooklyn Henderson, Kelly Astudillo et al. · 2022 · Figshare
  80. Genetic Associations with Longevity in a Calabrian Cohort: A Genome-Wide Study
    Livia Beccacece, Paolina Crocco, Benedetta Torbidoni-Baldassari, Stefano Pallotti, Jie Huang, Michaël E. Belloy, Giuseppe Passarino, Giuseppina Rose, Serena Dato, Valerio Napolioni · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  81. Erbgut lesen
    Röbbe Wünschiers · 2026 · Springer eBooks
  82. Étude de la méthylation des gènes STAT3, IL2RA et CDH1 dans la maladie de Crohn iléale
    Solafah Abdalla · 2023 · theses.fr (ABES)
  83. Genetic associations with longevity in a Calabrian cohort: an exploratory genome-wide study
    Livia Beccacece, Paolina Crocco, Benedetta Torbidoni-Baldassari, Stefano Pallotti, Jie Huang, Michaël E. Belloy, Annibale Alessandro Puca, Harold T. Bae, Paola Sebastiani B, Giuseppe Passarino et al. · 2026 · GeroScience
  84. Patrilineal Genetic Ancestry of Moroccan Jews
    Raquel Levy-Toledano, W. H. Penninx, Michael Waas, Göran Runfeldt, Michael Sager, Paul Andrew Maier, Adam Brown · 2026 · Genealogy
  85. The Use of Population Isolates to Identify Metabolic Syndrome's Genetic Aetiology
    Jacob Meyjes-Brown, Heidi G. E. Sutherland, Rod A. Lea, Lyn Robyn Griffiths · 2026 · Molecular Genetics & Genomic Medicine
  86. Genomic reconstruction of the Pakistani Roma reveals dual South Asian ancestry, medieval bottlenecks, and the early dispersal routes of the Romani people
    Atif Adnan, Hao Dong Chen, Allah Rakha, Muhammad Ilyas, Chuan-Chao Wang · 2026 · Human Genomics
  87. Comprehensive evaluation of structural variation detection for germline and somatic analysis with long-read sequencing data
    Hua Wang Shi, Yihang Lin, Dachen Liu, Hongfeng Wu, Ashidi Nor Mat Isa, Leyi Wei, Quan Zou, Xiang Chen · 2026 · Briefings in Bioinformatics
  88. World Jewish Population, 2024
    Sergio DellaPergola · 2026 · American Jewish year book