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Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Harrison, Steven M; Dolinksy, Jill S; Chen, Wenjie; Collins, Christin D; Das, Soma; Deignan, Joshua L; Garber, Kathryn B; Garcia, John; Jarinova, Olga; Knight Johnson, Amy E; Koskenvuo, Juha W; Lee, Hane; Mao, Rong; Mar-Heyming, Rebecca; McFaddin, Andrew S; Moyer, Krista; Nagan, Narasimhan; Rentas, Stefan; Santani, Avni B; Seppälä, Eija H; Shirts, Brian H; Tidwell, Timothy; Topper, Scott; Vincent, Lisa M; Vinette, Kathy; Rehm, Heidi L.
Affiliation
  • Harrison SM; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.
  • Dolinksy JS; Department of Pathology, Harvard Medical School, Boston, Massachusetts.
  • Chen W; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
  • Collins CD; Ambry Genetics, Aliso Viejo, California.
  • Das S; Integrated Genetics, Laboratory Corporation of America Holdings, Westborough, Massachusetts.
  • Deignan JL; EGL Genetics, Tucker, Georgia.
  • Garber KB; Global Laboratory Services, PerkinElmer Genomics, Branford, Connecticut.
  • Garcia J; Department of Human Genetics, The University of Chicago, Chicago, Illinois.
  • Jarinova O; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
  • Knight Johnson AE; EGL Genetics, Tucker, Georgia.
  • Koskenvuo JW; Invitae Corporation, San Francisco, California.
  • Lee H; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Mao R; Department of Human Genetics, The University of Chicago, Chicago, Illinois.
  • Mar-Heyming R; Blueprint Genetics, Helsinki, Finland.
  • McFaddin AS; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
  • Moyer K; ARUP Laboratories, Salt Lake City, Utah.
  • Nagan N; Department of Pathology, University of Utah, Salt Lake City, Utah.
  • Rentas S; Counsyl, South San Francisco, California.
  • Santani AB; Department of Laboratory Medicine, University of Washington, Seattle, Washington.
  • Seppälä EH; Counsyl, South San Francisco, California.
  • Shirts BH; Integrated Genetics, Laboratory Corporation of America Holdings, Westborough, Massachusetts.
  • Tidwell T; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Topper S; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Vincent LM; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Vinette K; Blueprint Genetics, Helsinki, Finland.
  • Rehm HL; Department of Laboratory Medicine, University of Washington, Seattle, Washington.
Hum Mutat ; 39(11): 1641-1649, 2018 11.
Article in En | MEDLINE | ID: mdl-30311378
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Full text: 1 Database: MEDLINE Main subject: Genetic Variation / Genome, Human / Genetic Testing / Databases, Genetic Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2018 Type: Article
Fulltext
Add to My VHL
Print
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Full text: 1 Database: MEDLINE Main subject: Genetic Variation / Genome, Human / Genetic Testing / Databases, Genetic Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2018 Type: Article