ClinGen advancing genomic data‐sharing standards as a GA4GH driver project

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作者： Dolman Lena ^[1] ; Page Angela ^[2] ; Babb Lawrence ^[3] ; Freimuth Robert R. ^[4] ; Arachchi Harindra ^[5] ; Bizon Chris ^[6] ; Brush Matthew ^[7] ; Fiume Marc ^[8] ; Haendel Melissa ^[9] ; Hansen David P. ; Milosavljevic Aleksandar ; Patel Ronak Y. ; Pawliczek Piotr ; Yates Andrew D. ; Rehm Heidi L.

作者单位： Australian e‐Health Research CentreCSIRO, UQ Health Sciences BuildingHerston,Qld,Australia ^[1] Global Alliance for Genomics and Health HeadquartersOntario Institute for Cancer ResearchToronto ^[2] Sunquest Information SystemsBoston,Massachusetts ^[3] Broad Institute of MIT and HarvardCambridge,Massachusetts ^[4] Renaissance Computing InstituteUniversity of North CarolinaChapel Hill,North Carolina ^[5] European Molecular Biology LaboratoryWellcome Genome CampusHinxton,Cambridge,United Kingdom ^[6] Oregon Clinical & Translational Research InstituteOregon Health & Science UniversityPortland,Oregon ^[7] Department of Molecular and Human GeneticsBaylor College of MedicineHouston,Texas ^[8] Department of Health Sciences Research, Center for Individualized MedicineMayo ClinicRochester ^[9]

关键词 data sharing genomic knowledge phenotype ontology standards variant annotation variant representation

发布时间 2019-03-17

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