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Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG).
Raca, Gordana; Astbury, Caroline; Behlmann, Andrea; De Castro, Mauricio J; Hickey, Scott E; Karaca, Ender; Lowther, Chelsea; Riggs, Erin Rooney; Seifert, Bryce A; Thorland, Erik C; Deignan, Joshua L.
Afiliação
  • Raca G; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, University of Southern California, Los Angeles, CA.
  • Astbury C; Robert J. Tomsich Pathology & Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH.
  • Behlmann A; Invitae, San Francisco, CA.
  • De Castro MJ; Molecular Genetics Laboratory, Air Force Medical Genetics Center, Keesler Air Force Base, Biloxi, MS; The University of Mississippi Medical Center, Jackson, MS.
  • Hickey SE; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, OH.
  • Karaca E; Department of Pathology, Baylor University Medical Center, Dallas, TX.
  • Lowther C; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.
  • Riggs ER; Autism & Developmental Medicine Institute, Geisinger, Danville, PA.
  • Seifert BA; Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Thorland EC; Genomics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
  • Deignan JL; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA.
Genet Med ; 25(2): 100316, 2023 02.
Article em En | MEDLINE | ID: mdl-36507974
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genética Médica Tipo de estudo: Diagnostic_studies Limite: Humans País como assunto: America do norte Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genética Médica Tipo de estudo: Diagnostic_studies Limite: Humans País como assunto: America do norte Idioma: En Ano de publicação: 2023 Tipo de documento: Article