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seqr: A web-based analysis and collaboration tool for rare disease genomics.

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第一作者： Lynn S,Pais

第一单位： Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.;Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

作者： Lynn S,Pais ^[1] ; Hana,Snow ^[2] ; Ben,Weisburd ^[2] ; Shifa,Zhang ^[2] ; Samantha M,Baxter ^[2] ; Stephanie,DiTroia ^[1] ; Emily,O'Heir ^[1] ; Eleina,England ^[1] ; Katherine R,Chao ^[2] ; Gabrielle,Lemire ^[1] ; Ikeoluwa,Osei-Owusu ^[2] ; Grace E,VanNoy ^[2] ; Michael,Wilson ^[2] ; Kevin,Nguyen ^[2] ; Harindra,Arachchi ^[2] ; William,Phu ^[1] ; Matthew,Solomonson ^[2] ; Stacy,Mano ^[2] ; Melanie,O'Leary ^[2] ; Alysia,Lovgren ^[2] ; Lawrence,Babb ^[2] ; Christina A,Austin-Tse ^[3] ; Heidi L,Rehm ^[3] ; Daniel G,MacArthur ^[4] ; Anne,O'Donnell-Luria ^[1]

作者单位： Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.;Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. ^[1] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. ^[2] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.;Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA. ^[3] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.;Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, Australia.;Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia. ^[4]

关键词 data sharing genomic analysis novel gene discovery rare disease diagnosis research collaboration variant filtration

医学主题词基因组学(Genomics);人类(Humans);因特网(Internet);少见病(Rare Diseases);软件(Software)

DOI 10.1002/humu.24366

PMID 35266241

发布时间 2023-06-02

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