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Best practices for the interpretation and reporting of clinical whole genome sequencing.
Austin-Tse, Christina A; Jobanputra, Vaidehi; Perry, Denise L; Bick, David; Taft, Ryan J; Venner, Eric; Gibbs, Richard A; Young, Ted; Barnett, Sarah; Belmont, John W; Boczek, Nicole; Chowdhury, Shimul; Ellsworth, Katarzyna A; Guha, Saurav; Kulkarni, Shashikant; Marcou, Cherisse; Meng, Linyan; Murdock, David R; Rehman, Atteeq U; Spiteri, Elizabeth; Thomas-Wilson, Amanda; Kearney, Hutton M; Rehm, Heidi L.
Afiliación
  • Austin-Tse CA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. ctse@mgh.harvard.edu.
  • Jobanputra V; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA. ctse@mgh.harvard.edu.
  • Perry DL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. ctse@mgh.harvard.edu.
  • Bick D; Molecular Diagnostics Laboratory, New York Genome Center, New York, NY, USA.
  • Taft RJ; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.
  • Venner E; Illumina Inc., San Diego, CA, USA.
  • Gibbs RA; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
  • Young T; Illumina Inc., San Diego, CA, USA.
  • Barnett S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Belmont JW; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Boczek N; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
  • Chowdhury S; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Ellsworth KA; Illumina Inc., San Diego, CA, USA.
  • Guha S; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Kulkarni S; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
  • Marcou C; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Meng L; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Murdock DR; Molecular Diagnostics Laboratory, New York Genome Center, New York, NY, USA.
  • Rehman AU; Baylor Genetics and Baylor College of Medicine, Houston, TX, USA.
  • Spiteri E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Thomas-Wilson A; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Kearney HM; Baylor Genetics and Baylor College of Medicine, Houston, TX, USA.
  • Rehm HL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
NPJ Genom Med ; 7(1): 27, 2022 Apr 08.
Article en En | MEDLINE | ID: mdl-35395838
ABSTRACT
Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these gaps, the Medical Genome Initiative, a consortium of leading health care and research organizations in the US and Canada, was formed to expand access to high quality clinical WGS by convening experts and publishing best practices. Here, we present best practice recommendations for the interpretation and reporting of clinical diagnostic WGS, including discussion of challenges and emerging approaches that will be critical to harness the full potential of this comprehensive test.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Guideline Idioma: En Revista: NPJ Genom Med Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Guideline Idioma: En Revista: NPJ Genom Med Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos