Transcript expression-aware annotation improves rare variant interpretation

Journal: Nature

Published: 2020-05-27

DOI: 10.1038/s41586-020-2329-2

Affiliations: 165

Authors: 176

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Institutions Share
Program in Medical and Population Genetics, Broad Institute, United States of America (USA) 0.13
Data Sciences Platform (DSP), Broad Institute, United States of America (USA) 0.11
Analytic and Translational Genetics Unit (ATGU), MGH, United States of America (USA) 0.08
Stanley Center for Psychiatric Research, Broad Institute, United States of America (USA) 0.02
Genomics Platform, Broad Institute, United States of America (USA) 0.02
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG), Cardiff University, United Kingdom (UK) 0.02
Department of Clinical Sciences - Malmö (DCSM), LU, Sweden 0.01
Charles Bronfman Institute for Personalized Medicine (IPM), ISMMS, United States of America (USA) 0.01
NIHR Leicester Cardiovascular Biomedical Research Unit (LCBRU), United Kingdom (UK) 0.01
Center for Genome Science (CGS), KNIH, South Korea 0.01
National Institute for Health and Welfare (THL), Finland 0.01
Saint Antoine Hospital, France 0.01
Department of Quantitative Health Sciences (QHS), Cleveland Clinic, United States of America (USA) 0.01
Institute for Molecular Medicine Finland (FIMM), Finland 0.01
National Institute of Medical Science and Nutrition Salvador Zubiran (INCMNSZ), Mexico 0.01
Department of Internal Medicine, SNU, South Korea 0.01
Department of Medicine and Therapeutics, CUHK, China 0.01
Department of Medical Epidemiology and Biostatistics (MEB), KI, Sweden 0.01
European Bioinformatics Institute (EMBL-EBI), United Kingdom (UK) 0.01
Harvard Department of Medicine, United States of America (USA) 0.01
Lund University Diabetes Centre (LUDC), LU, Sweden 0.01
Department of Public Health Solutions, THL, Finland 0.01
Institute of Biomedicine, UEF, Finland 0.01
Oxford Radcliffe Department of Medicine (RDM), United Kingdom (UK) 0.01
Department of Gastroenterology and Hepatology, RUG, Netherlands 0.01
Center for Population Health Research (CISP), INSP, Mexico 0.01
Department of Physiology and Biophysics, Ole Miss, United States of America (USA) 0.01
Institute for Genomic Medicine (IGM), CU, United States of America (USA) 0.01
Department of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, United States of America (USA) 0.01
Department of Endocrinology, Metabolism and Diabetes, HUJI, Israel 0.01
Cancer Area, Broad Institute, United States of America (USA) 0.01
Institute of Clinical Molecular Biology (IKMB), UKSH Kiel, Germany 0.01
HUCH Department of Neurology, Finland 0.01
USC Department of Psychiatry and Behavioral Sciences, United States of America (USA) 0.01
Ninewells Hospital and Medical School, United Kingdom (UK) 0.01
Institute of Clinical Medicine, UEF, Finland 0.01
National Institute of Genomic Medicine (INMEGEN), Mexico 0.01
Department of Psychiatry and Behavioral Sciences, JHU, United States of America (USA) 0.01
Atherogenomics Laboratory, uOttawa, Canada 0.01
Cedars-Sinai F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute (F. Widjaja Foundation IBIRI), United States of America (USA) 0.01
Fimlab Laboratories Ltd., Finland 0.01
Finnish Cardiovascular Research Center-Tampere, Tampere University, Finland 0.01
Department of Genetics, Texas Biomed, United States of America (USA) 0.01
Shaare Zedek Medical Center (SZMC), Israel 0.01
Department of Pediatrics, Emory University, United States of America (USA) 0.01
Yale Section of Cardiovascular Medicine, United States of America (USA) 0.01
ICR Division of Genetics and Epidemiology, United Kingdom (UK) 0.01
Faculty of Medicine (FMed), University of Oulu, Finland 0.01
Department of Health, THL, Finland 0.01
Department of Twin Research and Genetic Epidemiology, KCL, United Kingdom (UK) 0.01
Helsinki University Central Hospital (HUCH), Finland 0.01
Human Genetics Center (HGC), UTHealth, United States of America (USA) 0.01
NIH National Human Genome Research Institute (NHGRI), United States of America (USA) 0.01
Peninsula College of Medicine and Dentistry (PCMD), United Kingdom (UK) 0.01
Center for Genomic Medicine (CGM), MGH, United States of America (USA) 0.01
Wellcome Sanger Institute, United Kingdom (UK) 0.01
University Hospitals Parma Medical Center, Italy 0.01
McLean Hospital, United States of America (USA) 0.01
Department of Medicine, Ole Miss, United States of America (USA) 0.01
Colorado Department of Epidemiology, United States of America (USA) 0.01
Harvard Medical School (HMS), United States of America (USA) 0.01
Harvard PhD Program in Bioinformatics and Integrative Genomics (BIG), United States of America (USA) 0.01
National Heart and Lung Institute (NHLI), ICL, United Kingdom (UK) 0.01
MRC London Institute of Medical Sciences (LMS), United Kingdom (UK) 0.01
Estonian Genome Center, UT, Estonia 0
Institute of Genomics, UT, Estonia 0
Cardiac Arrhythmia Service, MGH, United States of America (USA) 0
Department of Public Health, University of Helsinki, Finland 0
Biomedical Research Networking Center on Cardiovascular Diseases (CIBERCV), Spain 0
Framingham Heart Study (FHS), United States of America (USA) 0
Cardiovascular Research Centre (CRC), Royal Brompton and Harefield NHS Foundation Trust, United Kingdom (UK) 0
Division of Preventive Medicine, BWH, United States of America (USA) 0
Division of Genetics and Genomics, BCH, United States of America (USA) 0
National University Health System (NUHS), Singapore 0
Harvard Biological and Biomedical Sciences Progam (BBS), United States of America (USA) 0
Harvard Department of Pediatrics, United States of America (USA) 0
Folkhälsan Institute of Genetics, Finland 0
Folkhälsan Research Center, Finland 0
Department of Molecular Medicine and Biopharmaceutical Sciences, SNU, South Korea 0
Skåne University Hospital (SUS), Sweden 0
Department of Pharmacology, UIC, United States of America (USA) 0
Division of Cardiovascular Medicine, VU, United States of America (USA) 0
Montreal Heart Institute, UdeM, Canada 0
Department of Medicine, UdeM, Canada 0
Department of Biomedical Informatics (DBMI), VU, United States of America (USA) 0
Department of Medicine, VU, United States of America (USA) 0
TUM German Heart Centre Munich (DHM), Germany 0
Technical University of Munich (TUM), Germany 0
Harvard Department of Genetics, United States of America (USA) 0
VA Tennessee Valley Healthcare System, United States of America (USA) 0
Department of Neuroscience and Neurology, UEF, Finland 0
Department of Psychiatry, UC San Diego, United States of America (USA) 0
Institute for Genomic Medicine (IGM), UC San Diego, United States of America (USA) 0
Instituto de Investigaciones Biomédicas (IIB), UNAM, Mexico 0
Infectious Disease and Microbiome Program, Broad Institute, United States of America (USA) 0
Department of Biostatistics, BU, United States of America (USA) 0
Center for Computational and Integrative Biology (CCIB), MGH, United States of America (USA) 0
Hospital del Mar Medical Research Institute (IMIM), Spain 0
Faculty of Medicine, University of Helsinki, Finland 0
Department of Genetics and Development, CU, United States of America (USA) 0
Department of Neurology, CU, United States of America (USA) 0
Department of Psychiatry, University of Helsinki, Finland 0
Center for Statistical Genetics (CSG), U-M, United States of America (USA) 0
Harvard Department of Psychiatry, United States of America (USA) 0
Department of Medicine, UIC, United States of America (USA) 0
Department of Biostatistics, U-M, United States of America (USA) 0
The Mindich Child Health and Development Institute (MCHDI), ISMMS, United States of America (USA) 0
Kuopio University Hospital (KUH), Finland 0
Department of Cardiology, LNWH, United Kingdom (UK) 0
Imperial College London (ICL), United Kingdom (UK) 0
Imperial College Healthcare NHS Trust, United Kingdom (UK) 0
Australian Centre for Population Genomics, Australia 0
Cardiovascular Research Center (CVRC), MGH, United States of America (USA) 0
Cardiovascular Epidemiology and Genetics Research Group, IMIM, Spain 0
UNC Department of Genetics, United States of America (USA) 0
UNC Department of Psychiatry, United States of America (USA) 0
Heart Center Lübeck, University of Lübeck, Germany 0
NUS Department of Medicine, Singapore 0
Duke-NUS Graduate Medical School Singapore, Singapore 0
NUS Life Sciences Institute (LSI), Singapore 0
Icahn Institute for Genomics and Multiscale Biology, ISMMS, United States of America (USA) 0
NUS Department of Statistics and Applied Probability, Singapore 0
Institute for Cardiogenetics, University of Lübeck, Germany 0
DZHK Partner Site Hamburg/Kiel/Lübeck, Germany 0
Facultat de Medicina, UVic-UCC, Spain 0
NIHR Oxford Biomedical Research Centre (OxBRC), United Kingdom (UK) 0
Department of Genetics and Genomic Sciences, ISMMS, United States of America (USA) 0
Department of Medicine, BU, United States of America (USA) 0
Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), United Kingdom (UK) 0
Oxford Wellcome Trust Centre for Human Genetics, United Kingdom (UK) 0
Li Ka Shing Institute of Health Sciences, CUHK, China 0
Division of General Internal Medicine, MGH, United States of America (USA) 0
Department of Human Biology, HU, Israel 0
Department of Medicine, Einstein, United States of America (USA) 0
Department of Psychiatry, ISMMS, United States of America (USA) 0
Department of Genetics, Einstein, United States of America (USA) 0
Department of Epidemiology, BU, United States of America (USA) 0
Department of Biochemistry, WFU, United States of America (USA) 0
Center for Genomics and Personalized Medicine Research, WFU, United States of America (USA) 0
Department of Biostatistics, Epidemiology and Informatics (DBEI), Penn, United States of America (USA) 0
Department of Medicine, Penn, United States of America (USA) 0
Center for Non-Communicable Diseases (CNCD), Pakistan 0
Center for Diabetes Research, WFU, United States of America (USA) 0
Hong Kong Institute of Diabetes and Obesity (HKIDO), CUHK, China 0
HUCH Abdominal Center, Finland 0
Division of Cardiovascular Medicine, BWH, United States of America (USA) 0
University Hospital Southampton NHS Foundation Trust, United Kingdom (UK) 0
Faculty of Medicine, Soton, United Kingdom (UK) 0
Department of Epidemiology and Biostatistics (EBS), ICL, United Kingdom (UK) 0
University of New South Wales (UNSW Sydney), Australia 0

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