An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

Lazarin, Gabriel A; Haque, Imran S; Nazareth, Shivani; Iori, Kevin; Patterson, A Scott; Jacobson, Jessica L; Marshall, John R; Seltzer, William K; Patrizio, Pasquale; Evans, Eric A; Srinivasan, Balaji S

Lazarin, Gabriel A; Haque, Imran S; Nazareth, Shivani; Iori, Kevin; Patterson, A Scott; Jacobson, Jessica L; Marshall, John R; Seltzer, William K; Patrizio, Pasquale; Evans, Eric A; Srinivasan, Balaji S.

Affiliation

Lazarin GA; Department of Genetics, Counsyl, South San Francisco, California, USA.

Genet Med ; 15(3): 178-86, 2013 Mar.

Article in En | MEDLINE | ID: mdl-22975760

Subject(s)

Genetic Carrier Screening; Genetic Diseases, Inborn/epidemiology; Genetic Diseases, Inborn/genetics; Heterozygote; Adolescent; Adult; Ethnicity/genetics; Female; Gene Frequency; Genetic Carrier Screening/methods; Humans; Male; Middle Aged; Young Adult

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Diseases, Inborn / Heterozygote / Genetic Carrier Screening Type of study: Guideline Limits: Adolescent / Adult / Female / Humans / Male / Middle aged Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2013 Type: Article Affiliation country: United States

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