Sequencing as a first-line methodology for cystic fibrosis carrier screening.

Beauchamp, Kyle A; Johansen Taber, Katherine A; Grauman, Peter V; Spurka, Lindsay; Lim-Harashima, Jeraldine; Svenson, Ashley; Goldberg, James D; Muzzey, Dale

Beauchamp, Kyle A; Johansen Taber, Katherine A; Grauman, Peter V; Spurka, Lindsay; Lim-Harashima, Jeraldine; Svenson, Ashley; Goldberg, James D; Muzzey, Dale.

Beauchamp KA; Myriad Women's Health (formerly Counsyl), South San Francisco, CA, USA.
Johansen Taber KA; Myriad Genetics, Salt Lake City, UT, USA.
Grauman PV; Myriad Women's Health (formerly Counsyl), South San Francisco, CA, USA.
Spurka L; Myriad Women's Health (formerly Counsyl), South San Francisco, CA, USA.
Lim-Harashima J; Guardant Health, Redwood City, CA, USA.
Svenson A; Myriad Women's Health (formerly Counsyl), South San Francisco, CA, USA.
Goldberg JD; Invitae, San Francisco, CA, USA.
Muzzey D; Myriad Women's Health (formerly Counsyl), South San Francisco, CA, USA.

Genet Med ; 21(11): 2569-2576, 2019 11.

Article en En | MEDLINE | ID: mdl-31036917

Asunto(s)

Fibrosis Quística/diagnóstico; Fibrosis Quística/genética; Pruebas Genéticas/métodos; Adulto; Variaciones en el Número de Copia de ADN/genética; Femenino; Secuenciación de Nucleótidos de Alto Rendimiento/métodos; Humanos; Mutación INDEL/genética; Mutación/genética; Embarazo; Sensibilidad y Especificidad

Palabras clave

carrier screening; cystic fibrosis; sequencing

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Fibrosis Quística Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Límite: Adult / Female / Humans / Pregnancy Idioma: En Año: 2019 Tipo del documento: Article

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