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Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

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第一作者： Harrison Steven M.

作者： Harrison Steven M. ^[1] ; Dolinksy Jill S. ^[2] ; Chen Wenjie ^[3] ; Collins Christin D. ^[4] ; Das Soma ^[5] ; Deignan Joshua L. ^[6] ; Garber Kathryn B. ^[7] ; Garcia John ^[8] ; Jarinova Olga ^[9] ; Knight Johnson Amy E. ^[10] ; Koskenvuo Juha W. ^[11] ; Lee Hane ^[12] ; Mao Rong ^[13] ; Mar‐Heyming Rebecca ^[14] ; McFaddin Andrew S. ^[15] ; Moyer Krista ; Nagan Narasimhan ; Rentas Stefan ; Santani Avni B. ; Sepp?l? Eija H. ; Shirts Brian H. ; Tidwell Timothy ; Topper Scott ; Vincent Lisa M. ; Vinette Kathy ; Rehm Heidi L. ; on behalf of ClinGen Sequence Variant Inter‐Laboratory Discrepancy Resolution Working Group

作者单位： EGL GeneticsTucker,Georgia ^[1] Department of GeneticsChildren's Hospital of Eastern OntarioOttawa,Ontario,Canada ^[2] Laboratory for Molecular MedicinePartners HealthCare Personalized MedicineCambridge,Massachusetts ^[3] Division of Genomic DiagnosticsThe Children's Hospital of PhiladelphiaPhiladelphia,Pennsylvania ^[4] ARUP LaboratoriesSalt Lake City,Utah ^[5] Department of Human GeneticsThe University of ChicagoChicago,Illinois ^[6] Department of Pathology and Laboratory MedicineDavid Geffen School of Medicine, University of ^[7] Integrated GeneticsWestborough,Massachusetts ^[8] Blueprint GeneticsHelsinki,Finland ^[9] Ambry GeneticsAliso Viejo,California ^[10] GeneDxGaithersburg,Maryland ^[11] Invitae CorporationSan Francisco,California ^[12] Department of Laboratory MedicineUniversity of WashingtonSeattle,Washington ^[13] CounsylSouth San Francisco,California ^[14] Molecular Diagnostics LaboratoryA. I. duPont Hospital for ChildrenWilmington,Delaware ^[15]

关键词 clinvar data sharing variant interpretation

发布时间 2019-03-17

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