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South Asian medical cohorts reveal strong founder effects and high rates of homozygosity.
Wall, Jeffrey D; Sathirapongsasuti, J Fah; Gupta, Ravi; Rasheed, Asif; Venkatesan, Radha; Belsare, Saurabh; Menon, Ramesh; Phalke, Sameer; Mittal, Anuradha; Fang, John; Tanneeru, Deepak; Deshmukh, Manjari; Bassi, Akshi; Robinson, Jacqueline; Chaudhary, Ruchi; Murugan, Sakthivel; Ul-Asar, Zameer; Saleem, Imran; Ishtiaq, Unzila; Fatima, Areej; Sheikh, Saqib Shafi; Hameed, Shahid; Ishaq, Mohammad; Rasheed, Syed Zahed; Memon, Fazal-Ur-Rehman; Jalal, Anjum; Abbas, Shahid; Frossard, Philippe; Fuchsberger, Christian; Forer, Lukas; Schoenherr, Sebastian; Bei, Qixin; Bhangale, Tushar; Tom, Jennifer; Gadde, Santosh Gopi Krishna; B V, Priya; Naik, Naveen Kumar; Wang, Minxian; Kwok, Pui-Yan; Khera, Amit V; Lakshmi, B R; Butterworth, Adam S; Chowdhury, Rajiv; Danesh, John; di Angelantonio, Emanuele; Naheed, Aliya; Goyal, Vinay; Kandadai, Rukmini M; Kumar, Hrishikesh; Borgohain, Rupam.
Afiliación
  • Wall JD; Institute for Human Genetics, University of California, San Francisco, CA, 94143, USA. jeffwall.genetics@gmail.com.
  • Sathirapongsasuti JF; Dept of Ornithology and Mammology, California Academy of Sciences, San Francisco, CA, 94118, USA. jeffwall.genetics@gmail.com.
  • Gupta R; MedGenome Inc., Foster City, CA, 94404, USA.
  • Rasheed A; GenomeAsia 100K Foundation, Foster City, CA, 94404, USA.
  • Venkatesan R; MedGenome Labs Pvt. Ltd., Bengaluru, Karnataka, 560099, India.
  • Belsare S; Center for Non-Communicable Disease, Karachi, Karachi City, Sindh, 75300, Pakistan.
  • Menon R; Madras Diabetes Research Foundation and Dr. Mohan's Diabetes Specialties Centre, Chennai, Tamil Nadu, 600086, India.
  • Phalke S; Institute for Human Genetics, University of California, San Francisco, CA, 94143, USA.
  • Mittal A; MedGenome Labs Pvt. Ltd., Bengaluru, Karnataka, 560099, India.
  • Fang J; MedGenome Labs Pvt. Ltd., Bengaluru, Karnataka, 560099, India.
  • Tanneeru D; Thermo Fisher Scientific, Santa Clara, CA, 95051, USA.
  • Deshmukh M; Thermo Fisher Scientific, Santa Clara, CA, 95051, USA.
  • Bassi A; MedGenome Labs Pvt. Ltd., Bengaluru, Karnataka, 560099, India.
  • Robinson J; MedGenome Labs Pvt. Ltd., Bengaluru, Karnataka, 560099, India.
  • Chaudhary R; MedGenome Labs Pvt. Ltd., Bengaluru, Karnataka, 560099, India.
  • Murugan S; Institute for Human Genetics, University of California, San Francisco, CA, 94143, USA.
  • Ul-Asar Z; MedGenome Inc., Foster City, CA, 94404, USA.
  • Saleem I; MedGenome Labs Pvt. Ltd., Bengaluru, Karnataka, 560099, India.
  • Ishtiaq U; Center for Non-Communicable Disease, Karachi, Karachi City, Sindh, 75300, Pakistan.
  • Fatima A; Center for Non-Communicable Disease, Karachi, Karachi City, Sindh, 75300, Pakistan.
  • Sheikh SS; Center for Non-Communicable Disease, Karachi, Karachi City, Sindh, 75300, Pakistan.
  • Hameed S; Center for Non-Communicable Disease, Karachi, Karachi City, Sindh, 75300, Pakistan.
  • Ishaq M; Punjab Institute of Cardiology, Lahore, Pakistan.
  • Rasheed SZ; Punjab Institute of Cardiology, Lahore, Pakistan.
  • Memon FU; Karachi Institute of Heart Diseases, Karachi, Pakistan.
  • Jalal A; Karachi Institute of Heart Diseases, Karachi, Pakistan.
  • Abbas S; Red Crescent Institute of Cardiology, Hyderabad, Pakistan.
  • Frossard P; Faisalabad Institute of Cardiology, Faisalabad, Pakistan.
  • Fuchsberger C; Faisalabad Institute of Cardiology, Faisalabad, Pakistan.
  • Forer L; Center for Non-Communicable Disease, Karachi, Karachi City, Sindh, 75300, Pakistan.
  • Schoenherr S; Department of Biostatistics, University of Michigan, Ann Arbor, MI, 48109, USA.
  • Bei Q; Institute for Biomedicine, Eurac Research, Bolzano, Italy.
  • Bhangale T; Institute of Genetic Epidemiology, Department of Genetics and Pharmacology, Medical University of Innsbruck, Innsbruck, Austria.
  • Tom J; Institute of Genetic Epidemiology, Department of Genetics and Pharmacology, Medical University of Innsbruck, Innsbruck, Austria.
  • Gadde SGK; Institute of Genetic Epidemiology, Department of Genetics and Pharmacology, Medical University of Innsbruck, Innsbruck, Austria.
  • B V P; Department of Molecular Biology, Genentech, South San Francisco, CA, 94080, USA.
  • Naik NK; Department of Human Genetics, Genentech, South San Francisco, CA, 94080, USA.
  • Wang M; Product Development Data Sciences, Genentech, South San Francisco, CA, 94080, USA.
  • Kwok PY; Narayana Nethralaya Foundation, Bengaluru, Karnataka, 560010, India.
  • Khera AV; Narayana Nethralaya Foundation, Bengaluru, Karnataka, 560010, India.
  • Lakshmi BR; Narayana Nethralaya Foundation, Bengaluru, Karnataka, 560010, India.
  • Butterworth AS; Program in Medical and Population Genetics & Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
  • Chowdhury R; Institute for Human Genetics, University of California, San Francisco, CA, 94143, USA.
  • Danesh J; Cardiovascular Research Institute and Department of Dermatology, University of California San Francisco, San Francisco, CA, 94143, USA.
  • di Angelantonio E; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
  • Naheed A; Harvard Medical School, Boston, MA, 02115, USA.
  • Goyal V; Division of Cardiology, Department of Medicine, Brigham and Women's Hospital, MA, 02115, Boston, USA.
  • Kandadai RM; Verve Therapeutics, Cambridge, MA, 02139, USA.
  • Kumar H; MDCRC, Royal Care Super Speciality Hospital 1/520, Neelambur, Coimbatore, Tamil Nadu, 641062, India.
  • Borgohain R; British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Nat Commun ; 14(1): 3377, 2023 06 08.
Article en En | MEDLINE | ID: mdl-37291107
The benefits of large-scale genetic studies for healthcare of the populations studied are well documented, but these genetic studies have traditionally ignored people from some parts of the world, such as South Asia. Here we describe whole genome sequence (WGS) data from 4806 individuals recruited from the healthcare delivery systems of Pakistan, India and Bangladesh, combined with WGS from 927 individuals from isolated South Asian populations. We characterize population structure in South Asia and describe a genotyping array (SARGAM) and imputation reference panel that are optimized for South Asian genomes. We find evidence for high rates of reproductive isolation, endogamy and consanguinity that vary across the subcontinent and that lead to levels of rare homozygotes that reach 100 times that seen in outbred populations. Founder effects increase the power to associate functional variants with disease processes and make South Asia a uniquely powerful place for population-scale genetic studies.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Efecto Fundador / Pueblo Asiatico Tipo de estudio: Risk_factors_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Efecto Fundador / Pueblo Asiatico Tipo de estudio: Risk_factors_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido