Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Rehder, Catherine; Bean, Lora J H; Bick, David; Chao, Elizabeth; Chung, Wendy; Das, Soma; O'Daniel, Julianne; Rehm, Heidi; Shashi, Vandana; Vincent, Lisa M

Rehder, Catherine; Bean, Lora J H; Bick, David; Chao, Elizabeth; Chung, Wendy; Das, Soma; O'Daniel, Julianne; Rehm, Heidi; Shashi, Vandana; Vincent, Lisa M.

Rehder C; Department of Pathology, Duke University, Durham, NC, USA.
Bean LJH; Department of Human Genetics, Emory University, Atlanta, GA, USA.
Bick D; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
Chao E; Division of Genetics and Genomics, Department of Pediatrics, University of California, Irvine, CA, USA.
Chung W; Departments of Pediatrics and Medicine, Columbia University, New York, NY, USA.
Das S; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
O'Daniel J; Department of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Rehm H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Shashi V; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Vincent LM; Department of Pediatrics, Duke University, Durham, NC, USA.

Genet Med ; 23(8): 1399-1415, 2021 08.

Article en En | MEDLINE | ID: mdl-33927380

Asunto(s)

Genética Médica; Laboratorios; Pruebas Genéticas; Genómica; Secuenciación de Nucleótidos de Alto Rendimiento; Humanos; Estados Unidos

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Genética Médica / Laboratorios Tipo de estudio: Guideline Límite: Humans País como asunto: America do norte Idioma: En Año: 2021 Tipo del documento: Article

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