Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories.

Stefka, Julie; Streff, Haley; Liu, Pengfei; Towne, Meghan; Smith, Hadley Stevens

Stefka, Julie; Streff, Haley; Liu, Pengfei; Towne, Meghan; Smith, Hadley Stevens.

Afiliação

Stefka J; Genetic Counseling Program, School of Health Professions, Baylor College of Medicine, Houston, TX; Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA. Electronic address: jstefka@ambrygen.com.
Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics, Houston, TX.
Towne M; Medical Sciences, Ambry Genetics, Aliso Viejo, CA.
Smith HS; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX; Precision Medicine Translational Research Center (PROMoTeR), Department of Population Medicine, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA.

Genet Med ; 25(5): 100818, 2023 05.

Article em En | MEDLINE | ID: mdl-36852743

Assuntos

Testes Genéticos; Laboratórios; Humanos; Testes Genéticos/métodos; Estudos Retrospectivos; Sequenciamento do Exoma; Família

Palavras-chave

Cascade screening; Cascade testing; Clinical laboratory; Exome sequencing; Familial testing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Laboratórios Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de publicação: Estados Unidos

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