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Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
Marshall, Christian R; Chowdhury, Shimul; Taft, Ryan J; Lebo, Mathew S; Buchan, Jillian G; Harrison, Steven M; Rowsey, Ross; Klee, Eric W; Liu, Pengfei; Worthey, Elizabeth A; Jobanputra, Vaidehi; Dimmock, David; Kearney, Hutton M; Bick, David; Kulkarni, Shashikant; Taylor, Stacie L; Belmont, John W; Stavropoulos, Dimitri J; Lennon, Niall J.
Afiliación
  • Marshall CR; Department of Paediatric Laboratory Medicine, Genome Diagnostics, The Hospital for Sick Children, Toronto, ON Canada.
  • Chowdhury S; Rady Children's Institute for Genomic Medicine, San Diego, CA USA.
  • Taft RJ; Illumina Inc., San Diego, CA USA.
  • Lebo MS; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA USA.
  • Buchan JG; Broad Institute of MIT and Harvard, Cambridge, MA USA.
  • Harrison SM; Stanford Medicine Clinical Genomics Program, Stanford Health Care, Stanford, CA USA.
  • Rowsey R; Present Address: Department of Laboratory Medicine, University of Washington, Seattle, WA USA.
  • Klee EW; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA USA.
  • Liu P; Broad Institute of MIT and Harvard, Cambridge, MA USA.
  • Worthey EA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN USA.
  • Jobanputra V; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN USA.
  • Dimmock D; Department of Health Sciences Research, Mayo Clinic, Rochester, MN USA.
  • Kearney HM; Baylor Genetics and Baylor College of Medicine, Houston, TX USA.
  • Bick D; HudsonAlpha Institute for Biotechnology, Huntsville, AL USA.
  • Kulkarni S; Present Address: Center for Genomic Data Sciences, University of Alabama at Birmingham, Birmingham, AL USA.
  • Taylor SL; Molecular Diagnostics, New York Genome Center, New York, NY USA.
  • Belmont JW; Department of Pathology and Cell Biology, Columbia University Irving Medical Center (CUIMC), New York, NY USA.
  • Stavropoulos DJ; Rady Children's Institute for Genomic Medicine, San Diego, CA USA.
  • Lennon NJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN USA.
NPJ Genom Med ; 5: 47, 2020.
Article en En | MEDLINE | ID: mdl-33110627
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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Guideline Idioma: En Revista: NPJ Genom Med Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Guideline Idioma: En Revista: NPJ Genom Med Año: 2020 Tipo del documento: Article