The Polygenic and Monogenic Basis of Blood Traits and Diseases.,Cell

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The Polygenic and Monogenic Basis of Blood Traits and Diseases.
Cell ( IF 45.5 ) Pub Date : 2020-09-03 , DOI: 10.1016/j.cell.2020.08.008
Dragana Vuckovic ₁ , Erik L Bao ₂ , Parsa Akbari ₃ , Caleb A Lareau ₄ , Abdou Mousas ₅ , Tao Jiang ₆ , Ming-Huei Chen ₇ , Laura M Raffield ₈ , Manuel Tardaguila ₉ , Jennifer E Huffman ₁₀ , Scott C Ritchie ₁₁ , Karyn Megy ₁₂ , Hannes Ponstingl ₉ , Christopher J Penkett ₁₃ , Patrick K Albers ₉ , Emilie M Wigdor ₉ , Saori Sakaue ₁₄ , Arden Moscati ₁₅ , Regina Manansala ₁₆ , Ken Sin Lo ₅ , Huijun Qian ₁₇ , Masato Akiyama ₁₈ , Traci M Bartz ₁₉ , Yoav Ben-Shlomo ₂₀ , Andrew Beswick ₂₁ , Jette Bork-Jensen ₂₂ , Erwin P Bottinger ₂₃ , Jennifer A Brody ₂₄ , Frank J A van Rooij ₂₅ , Kumaraswamy N Chitrala ₂₆ , Peter W F Wilson ₂₇ , Hélène Choquet ₂₈ , John Danesh ₂₉ , Emanuele Di Angelantonio ₂₉ , Niki Dimou ₃₀ , Jingzhong Ding ₃₁ , Paul Elliott ₃₂ , Tõnu Esko ₃₃ , Michele K Evans ₂₆ , Stephan B Felix ₃₄ , James S Floyd ₃₅ , Linda Broer ₃₆ , Niels Grarup ₂₂ , Michael H Guo ₃₇ , Qi Guo ₃₈ , Andreas Greinacher ₃₉ , Jeff Haessler ₄₀ , Torben Hansen ₂₂ , Joanna M M Howson ₄₁ , Wei Huang ₄₂ , Eric Jorgenson ₂₈ , Tim Kacprowski ₄₃ , Mika Kähönen ₄₄ , Yoichiro Kamatani ₄₅ , Masahiro Kanai ₄₆ , Savita Karthikeyan ₃₈ , Fotios Koskeridis ₄₇ , Leslie A Lange ₄₈ , Terho Lehtimäki ₄₉ , Allan Linneberg ₅₀ , Yongmei Liu ₅₁ , Leo-Pekka Lyytikäinen ₄₉ , Ani Manichaikul ₅₂ , Koichi Matsuda ₅₃ , Karen L Mohlke ₈ , Nina Mononen ₄₉ , Yoshinori Murakami ₅₄ , Girish N Nadkarni ₁₅ , Kjell Nikus ₅₅ , Nathan Pankratz ₅₆ , Oluf Pedersen ₂₂ , Michael Preuss ₁₅ , Bruce M Psaty ₅₇ , Olli T Raitakari ₅₈ , Stephen S Rich ₅₂ , Benjamin A T Rodriguez ₇ , Jonathan D Rosen ₅₉ , Jerome I Rotter ₆₀ , Petra Schubert ₆₁ , Cassandra N Spracklen ₆₂ , Praveen Surendran ₆₃ , Hua Tang ₆₄ , Jean-Claude Tardif ₆₅ , Mohsen Ghanbari ₆₆ , Uwe Völker ₆₇ , Henry Völzke ₆₈ , Nicholas A Watkins ₆₉ , Stefan Weiss ₆₇ , , Na Cai ₉ , Kousik Kundu ₇₀ , Stephen B Watt ₉ , Klaudia Walter ₉ , Alan B Zonderman ₂₆ , Kelly Cho ₇₁ , Yun Li ₇₂ , Ruth J F Loos ₁₅ , Julian C Knight ₇₃ , Michel Georges ₇₄ , Oliver Stegle ₇₅ , Evangelos Evangelou ₇₆ , Yukinori Okada ₇₇ , David J Roberts ₇₈ , Michael Inouye ₇₉ , Andrew D Johnson ₇ , Paul L Auer ₁₆ , William J Astle ₈₀ , Alexander P Reiner ₈₁ , Adam S Butterworth ₂₉ , Willem H Ouwehand ₈₂ , Guillaume Lettre ₆₅ , Vijay G Sankaran ₄ , Nicole Soranzo ₈₃

Affiliation

Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK; National Institute for Health Research Blood and Transplant Research Unit (NIHR BTRU) in Donor Health and Genomics, University of Cambridge, Cambridge, CB1 8RN, UK.
Division of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA; Harvard-MIT Health Sciences and Technology, Harvard Medical School, Boston, MA, 02142, USA.
Department of Public Health and Primary Care, British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, CB1 8RN, UK; National Institute for Health Research Blood and Transplant Research Unit (NIHR BTRU) in Donor Health and Genomics, University of Cambridge, Cambridge, CB1 8RN, UK; MRC Biostatistics Unit, University of Cambridge, Cambridge, CB2 0SR, UK; Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Division of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
Montreal Heart Institute, Montreal, Quebec, H1T 1C8, Canada.
Department of Public Health and Primary Care, British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, CB1 8RN, UK; National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge and Cambridge University Hospitals, Cambridge, CB2 0QQ, UK.
The Framingham Heart Study, National Heart, Lung and Blood Institute, Framingham, MA, 01702, USA; Population Sciences Branch, Division of Intramural Research, National Heart, Lung and Blood Institute, Framingham, MA, 01702, USA.
Department of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA.
Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Center for Population Genomics, Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA, 02130, USA.
Department of Public Health and Primary Care, Cambridge Baker Systems Genomics Initiative, University of Cambridge, Cambridge, CB1 8RN, UK; Cambridge Baker Systems Genomics Initiative, Baker Heart and Diabetes Institute, Melbourne, Victoria, VIC 3004, Australia; Department of Public Health and Primary Care, British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, CB1 8RN, UK; British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Addenbrooke's Hospital, Cambridge, CB2 0QQ, UK; National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge and Cambridge University Hospitals, Cambridge, CB2 0QQ, UK.
Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, UK; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge, CB2 0PT, UK; National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge, CB2 0PT, UK.
National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge, CB2 0PT, UK; Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, UK.
Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Osaka, 565-0871, Japan; Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, 230-0045, Japan.
Icahn School of Medicine at Mount Sinai, The Charles Bronfman Institute for Personalized Medicine, New York, NY, 10029, USA.
Zilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, WI, 53201, USA.
Department of Statistics and Operation Research, University of North Carolina, Chapel Hill, NC, 27599, USA.
Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, 230-0045, Japan; Department of Ocular Pathology and Imaging Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8581, Japan.
Department of Biostatistics, University of Washington, Seattle, WA, 98101, USA.
Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 1QU, UK.
Translational Health Sciences, Musculoskeletal Research Unit, Bristol Medical School, University of Bristol, Bristol, BS10 5NB, UK.
Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2200, Denmark.
Hasso-Plattner-Institut, Universität Potsdam, Potsdam, 14469, Germany; Icahn School of Medicine at Mount Sinai, The Charles Bronfman Institute for Personalized Medicine, New York, NY, 10029, USA.
Department of Medicine, University of Washington, Seattle, WA, 98101, USA.
Department of Epidemiology, Erasmus University Medical Center Rotterdam, Rotterdam, 3015 GE, the Netherlands.
Laboratory of Epidemiology and Population Science, National Institute on Aging/NIH, Baltimore, MD, 21224, USA.
Atlanta VA Medical Center, Decatur, GA, 30033, USA.
Division of Research, Kaiser Permanente Northern California, Oakland, CA, 94612, USA.
Department of Public Health and Primary Care, British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, CB1 8RN, UK; Health Data Research UK Cambridge, Wellcome Genome Campus and University of Cambridge, Cambridge, CB10 1SA, UK; National Institute for Health Research Blood and Transplant Research Unit (NIHR BTRU) in Donor Health and Genomics, University of Cambridge, Cambridge, CB1 8RN, UK; Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK; National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge and Cambridge University Hospitals, Cambridge, CB2 0QQ, UK; British Heart Foundation Centre of Research Excellence, University of Cambridge, Cambridge, CB1 8RN, UK.
Section of Nutrition and Metabolism, International Agency for Research on Cancer, Lyon, 69008, France; Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, 45110, Greece.
Department of Internal Medicine, Section of Gerontology and Geriatric Medicine, Wake Forest School of Medicine, Winston-Salem, NC, 27101, USA.
Department of Epidemiology and Biostatistics, Imperial College London, London, W2 1PG, UK; Imperial Biomedical Research Centre, Imperial College London and Imperial College NHS Healthcare Trust, London, W2 1NY, UK; Medical Research Council Centre for Environment and Health, Imperial College London, London, W2 1PG, UK; UK Dementia Research Institute, Imperial College London, London, WC1E 6BT, UK; Health Data Research UK London, London, W2 1PG, UK.
Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
Department of Internal Medicine B, University Medicine Greifswald, Greifswald, 17475, Germany; German Center for Cardiovascular Research (DZHK), Partner Site Greifswald, Greifswald, 17475, Germany.
Department of Medicine, University of Washington, Seattle, WA, 98101, USA; Department of Epidemiology, University of Washington, Seattle, WA, 98101, USA.
Department of Internal Medicine, Erasmus University Medical Center Rotterdam, Rotterdam, 3015 GE, the Netherlands.
Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA; Department of Neurology, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Department of Public Health and Primary Care, British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, CB1 8RN, UK.
Institute for Immunology and Transfusion Medicine, University Medicine Greifswald, Greifswald, 17475, Germany.
Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, 98101, USA.
Department of Public Health and Primary Care, British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, CB1 8RN, UK; National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge and Cambridge University Hospitals, Cambridge, CB2 0QQ, UK; Novo Nordisk Research Centre Oxford, Oxford, OX3 7FZ, UK.
Department of Genetics, Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center and Shanghai Industrial Technology Institute (SITI), Shanghai, 201203, China.
Interfaculty Institute of Genetics and Functional Genomics, University Medicine Greifswald, Greifswald, 17475, Germany; Chair of Experimental Bioinformatics, Research Group Computational Systems Medicine, Technical University of Munich, Freising-Weihenstephan, 85354, Germany; German Center for Cardiovascular Research (DZHK), Partner Site Greifswald, Greifswald, 17475, Germany.
Department of Clinical Physiology, Tampere University Hospital, Tampere, 33521, Finland; Department of Clinical Physiology, Finnish Cardiovascular Research Center - Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, 33014, Finland.
Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, 230-0045, Japan; Laboratory of Complex Trait Genomics, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, 108-8639, Japan.
Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, 230-0045, Japan; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA.
Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, 45110, Greece.
Department of Medicine, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO, 80045, USA.
Department of Clinical Chemistry, Fimlab Laboratories, Tampere, 33520, Finland; Department of Clinical Chemistry, Finnish Cardiovascular Research Center - Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, 33014, Finland.
Center for Clinical Research and Prevention, Bispebjerg and Frederiksberg Hospital, Frederiksberg, 2000, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2200, Denmark.
Department of Medicine, Division of Cardiology, Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, 27701, USA.
Center for Public Health Genomics, University of Virginia, Charlottesville, VA, 22903, USA.
Department of Computational Biology and Medical Sciences, Graduate school of Frontier Sciences, The University of Tokyo, Tokyo, 108-8639, Japan.
Division of Molecular Pathology, The Institute of Medical Science, The University of Tokyo, Tokyo, 108-8639, Japan.
Department of Cardiology, Heart Center, Tampere University Hospital, Tampere, 33521, Finland; Department of Cardiology, Finnish Cardiovascular Research Center - Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, 33014, Finland.
Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, 55455, USA.
Departments of Epidemiology, University of Washington, Seattle, WA, 98101, USA; Department of Medicine, University of Washington, Seattle, WA, 98101, USA; Department of Health Services, University of Washington, Seattle, WA, 98101, USA; Kaiser Permanente Washington Health Research Institute, Seattle, WA, 98101, USA.
Centre for Population Health Research, University of Turku and Turku University Hospital, Turku, 20521, Finland; Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku, Turku, 20521, Finland; Department of Clinical Physiology and Nuclear Medicine, Turku University Hospital, Turku, 20521, Finland.
Department of Biostatistics, University of North Carolina, Chapel Hill, NC, 27599, USA.
Department of Pediatrics, The Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center, Torrance, CA, 90502, USA.
Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA, 02130, USA.
Department of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA; Department of Biostatistics and Epidemiology, University of Massachusetts-Amherst, Amherst, MA, 01002, USA.
Department of Public Health and Primary Care, British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, CB1 8RN, UK; British Heart Foundation Centre of Research Excellence, University of Cambridge, Cambridge, CB1 8RN, UK; Health Data Research UK Cambridge, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK; Department of Public Health and Primary Care, Rutherford Fund Fellow, University of Cambridge, Cambridge, CB1 8RN, UK.
Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA.
Montreal Heart Institute, Montreal, Quebec, H1T 1C8, Canada; Department of Medicine, Faculty of Medicine, Université de Montréal, Montreal, Quebec, H3T 1J4, Canada.
Department of Epidemiology, Erasmus University Medical Center Rotterdam, Rotterdam, 3015 GE, the Netherlands; Department of Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, 9177948564, Iran.
Interfaculty Institute of Genetics and Functional Genomics, University Medicine Greifswald, Greifswald, 17475, Germany; German Center for Cardiovascular Research (DZHK), Partner Site Greifswald, Greifswald, 17475, Germany.
Institute for Community Medicine, University Medicine Greifswald, Greifswald, 17475, Germany; German Center for Cardiovascular Research (DZHK), Partner Site Greifswald, Greifswald, 17475, Germany.
National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge, CB2 0PT, UK.
Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK; Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, UK.
Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA, 02130, USA; Department of Medicine, Division on Aging, Brigham and Women's Hospital, Boston, MA, 02115, USA; Department of Medicine, Harvard Medical School, Boston, MA, 02115, USA.
Department of Biostatistics, University of North Carolina, Chapel Hill, NC, 27599, USA; Department of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA; Department of Computer Science, University of North Carolina, Chapel Hill, NC, 27599, USA.
Wellcome Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK.
Unit of Animal Genomics, GIGA-R & Faculty of Veterinary Medicine, University of Liège, Liège, B-4000, Belgium.
European Bioinformatics Institute, European Molecular Biology Laboratory, Hinxton, CB10 1SA, UK.
Department of Epidemiology and Biostatistics, Imperial College London, London, W2 1PG, UK; Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, 45110, Greece.
Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Osaka, 565-0871, Japan; Laboratory of Statistical Immunology, Osaka University Graduate School of Medicine, Suita, Osaka, 565-0871, Japan.
BRC Haematology Theme and Radcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DU, UK; NHSBT Blood and Transplant - Oxford Center, John Radcliffe Hospital, Oxford, OX3 9BQ, UK.
Department of Public Health and Primary Care, Cambridge Baker Systems Genomics Initiative, University of Cambridge, Cambridge, CB1 8RN, UK; Cambridge Baker Systems Genomics Initiative, Baker Heart and Diabetes Institute, Melbourne, Victoria, VIC 3004, Australia; Department of Public Health and Primary Care, British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, CB1 8RN, UK; British Heart Foundation Centre of Research Excellence, University of Cambridge, Cambridge, CB1 8RN, UK; National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge and Cambridge University Hospitals, Cambridge, CB2 0QQ, UK; Health Data Research UK Cambridge, Wellcome Genome Campus and University of Cambridge, Cambridge, CB10 1SA, UK; The Alan Turing Institute, London, NW1 2DB, UK.
MRC Biostatistics Unit, University of Cambridge, Cambridge, CB2 0SR, UK; National Institute for Health Research Blood and Transplant Research Unit (NIHR BTRU) in Donor Health and Genomics, University of Cambridge, Cambridge, CB1 8RN, UK; National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge, CB2 0PT, UK.
Department of Epidemiology, University of Washington, Seattle, WA, 98109, USA.
Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, UK; National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge, CB2 0PT, UK; Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK; National Institute for Health Research Blood and Transplant Research Unit (NIHR BTRU) in Donor Health and Genomics, University of Cambridge, Cambridge, CB1 8RN, UK; British Heart Foundation Centre of Research Excellence, University of Cambridge, Cambridge, CB1 8RN, UK.
Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK; National Institute for Health Research Blood and Transplant Research Unit (NIHR BTRU) in Donor Health and Genomics, University of Cambridge, Cambridge, CB1 8RN, UK; British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Addenbrooke's Hospital, Cambridge, CB2 0QQ, UK; Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, UK.

Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and clotting, which when perturbed cause a significant global health burden. Here we integrate data from UK Biobank and a large-scale international collaborative effort, including data for 563,085 European ancestry participants, and discover 5,106 new genetic variants independently associated with 29 blood cell phenotypes covering a range of variation impacting hematopoiesis. We holistically characterize the genetic architecture of hematopoiesis, assess the relevance of the omnigenic model to blood cell phenotypes, delineate relevant hematopoietic cell states influenced by regulatory genetic variants and gene networks, identify novel splice-altering variants mediating the associations, and assess the polygenic prediction potential for blood traits and clinical disorders at the interface of complex and Mendelian genetics. These results show the power of large-scale blood cell trait GWAS to interrogate clinically meaningful variants across a wide allelic spectrum of human variation.

中文翻译：

血液性状和疾病的多基因和单基因基础。

血细胞在人类健康中发挥着重要作用，支持免疫、氧气运输和凝血等生理过程，当这些过程受到干扰时，会造成重大的全球健康负担。在这里，我们整合了来自英国生物银行和大规模国际合作项目的数据，包括 563,085 名欧洲血统参与者的数据，并发现了 5,106 个新的遗传变异，这些变异与 29 种血细胞表型独立相关，涵盖了一系列影响造血功能的变异。我们全面描述造血的遗传结构，评估全基因模型与血细胞表型的相关性，描绘受调控遗传变异和基因网络影响的相关造血细胞状态，识别介导关联的新剪接改变变异，并评估多基因预测复杂遗传学和孟德尔遗传学交汇处的血液特征和临床疾病的潜力。这些结果显示了大规模血细胞性状 GWAS 能够在人类变异的广泛等位基因谱中询问具有临床意义的变异。

更新日期：2020-09-03

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