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Volumn 98, Issue 6, 2016, Pages 1077-1081

Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; GENE SEGREGATION; GENETIC VARIABILITY; GENOMICS; HUMAN; MEDICAL SOCIETY; PATHOGENICITY; PRACTICE GUIDELINE; PRIORITY JOURNAL; STANDARDIZATION; DNA SEQUENCE; EVIDENCE BASED PRACTICE; FEMALE; GENETIC SCREENING; GENETIC VARIATION; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; INCIDENTAL FINDING; LABORATORY; MALE; MEDICAL RESEARCH; MUTATION; PEDIGREE; PROCEDURES; SOFTWARE; STANDARDS; UNITED STATES;

EID: 84969962223     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.04.003     Document Type: Article
Times cited : (202)

References (6)
  • 1
    • 84928209346 scopus 로고    scopus 로고
    • Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
    • S. Richards, N. Aziz, S. Bale, D. Bick, S. Das, J. Gastier-Foster, W.W. Grody, M. Hegde, E. Lyon, E. Spector, et al. ACMG Laboratory Quality Assurance Committee Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet. Med. 17 2015 405 424
    • (2015) Genet. Med. , vol.17 , pp. 405-424
    • Richards, S.1    Aziz, N.2    Bale, S.3    Bick, D.4    Das, S.5    Gastier-Foster, J.6    Grody, W.W.7    Hegde, M.8    Lyon, E.9    Spector, E.10
  • 2
    • 0042387707 scopus 로고    scopus 로고
    • A full-likelihood method for the evaluation of causality of sequence variants from family data
    • D. Thompson, D.F. Easton, and D.E. Goldgar A full-likelihood method for the evaluation of causality of sequence variants from family data Am. J. Hum. Genet. 73 2003 652 655
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 652-655
    • Thompson, D.1    Easton, D.F.2    Goldgar, D.E.3
  • 3
    • 46749115464 scopus 로고    scopus 로고
    • Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: Hereditary hemorrhagic telangiectasia as a model
    • P. Bayrak-Toydemir, J. McDonald, R. Mao, A. Phansalkar, F. Gedge, J. Robles, D. Goldgar, and E. Lyon Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model Exp. Mol. Pathol. 85 2008 45 49
    • (2008) Exp. Mol. Pathol. , vol.85 , pp. 45-49
    • Bayrak-Toydemir, P.1    McDonald, J.2    Mao, R.3    Phansalkar, A.4    Gedge, F.5    Robles, J.6    Goldgar, D.7    Lyon, E.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.