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

Molecular Genetics and Genomic Medicine

Volumn 3, Issue 4, 2015, Pages 363-373

  Perreault Micale, Cynthia ^a   Davie, Jocelyn ^a   Breton, Benjamin ^a   Hallam, Stephanie ^a   Greger, Valerie ^a  

^a Good Start Genetics Inc   (United States)

Author keywords

BLM; Bloom syndrome; Carrier screening; Next generation DNA sequencing; Recessive disorders; Variant classification

Indexed keywords

EID: 84977835792     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.148     Document Type: Article

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