A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.

Perreault-Micale, Cynthia; Davie, Jocelyn; Breton, Benjamin; Hallam, Stephanie; Greger, Valerie

Perreault-Micale, Cynthia; Davie, Jocelyn; Breton, Benjamin; Hallam, Stephanie; Greger, Valerie.

Afiliación

Perreault-Micale C; Good Start Genetics, Inc. 237 Putnam Avenue, Cambridge, Massachusetts, 02139.
Davie J; Good Start Genetics, Inc. 237 Putnam Avenue, Cambridge, Massachusetts, 02139.
Breton B; Good Start Genetics, Inc. 237 Putnam Avenue, Cambridge, Massachusetts, 02139.
Hallam S; Good Start Genetics, Inc. 237 Putnam Avenue, Cambridge, Massachusetts, 02139.
Greger V; Good Start Genetics, Inc. 237 Putnam Avenue, Cambridge, Massachusetts, 02139.

Mol Genet Genomic Med ; 3(4): 363-73, 2015 Jul.

Article en En | MEDLINE | ID: mdl-26247052

Palabras clave

BLM; bloom syndrome; carrier screening; next-generation DNA sequencing; recessive disorders; variant classification

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: Mol Genet Genomic Med Año: 2015 Tipo del documento: Article Pais de publicación: Estados Unidos

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