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Transcript expression-aware annotation improves rare variant interpretation.

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第一作者： Beryl B,Cummings

第一单位： Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA.

作者： Beryl B,Cummings ^[1] ; Konrad J,Karczewski ^[2] ; Jack A,Kosmicki ^[3] ; Eleanor G,Seaby ^[4] ; Nicholas A,Watts ^[2] ; Moriel,Singer-Berk ^[5] ; Jonathan M,Mudge ^[6] ; Juha,Karjalainen ^[7] ; F Kyle,Satterstrom ^[7] ; Anne H,O'Donnell-Luria ^[8] ; Timothy,Poterba ^[7] ; Cotton,Seed ^[9] ; Matthew,Solomonson ^[2] ; Jessica,Alföldi ^[2] ; Genome Aggregation Database Production Team ^[2] ; Genome Aggregation Database Consortium ^[10] ; Mark J,Daly ; Daniel G,MacArthur

作者单位： Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA. ^[1] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. ^[2] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA. ^[3] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Genomic Informatics Group, University Hospital Southampton, Southampton, UK. ^[4] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. ^[5] European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK. ^[6] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. ^[7] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.;Department of Pediatrics, Harvard Medical School, Boston, MA, USA. ^[8] Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. ^[9] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. d.macarthur@garvan.org.au.;Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. d.macarthur@garvan.org.au.;Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Syndney, Australia. d.macarthur@garvan.org.au.;Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia. d.macarthur@garvan.org.au. ^[10]