Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing

PeerJ

Volumn 2016, Issue 6, 2016, Pages

  Kang, Hyunseok P ^a   Maguire, Jared R ^a   Chu, Clement S ^a   Haque, Imran S ^a   Lai, Henry ^a   Mar Heyming, Rebecca ^a   Ready, Kaylene ^a   Vysotskaia, Valentina S ^a   Evans, Eric A ^a  

^a Counsyl Inc ^*  (United States)

Author keywords

Analytical validation; BRCA testing; Hereditary breast and ovarian cancer; Next generation sequencing assay

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ARTICLE; CANCER SCREENING; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; GERMLINE MUTATION; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HUMAN; INDEL MUTATION; MAMMOGRAPHY; NEXT GENERATION SEQUENCING; PANCREAS CANCER; PRACTICE GUIDELINE; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; TUMOR SUPPRESSOR GENE; VALIDATION PROCESS;

EID: 84977103440     PISSN: None     EISSN: 21678359     Source Type: Journal    
DOI: 10.7717/peerj.2162     Document Type: Article

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