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Volumn 35, Issue 8, 2014, Pages 909-911

The Challenge for the Next Generation of Medical Geneticists

Author keywords

CNV; Exome; Genetic variation; Genome wide association studies; Interpretation; NGS; VUS; WES; WGS

Indexed keywords

ALLELE; DEVICES; DNA SEQUENCE; EXOME; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC DATABASE; GENOTYPE; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN GENOME; MEDICAL GENETICS; PHENOTYPE; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84904431661     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22592     Document Type: Note
Times cited : (42)

References (10)
  • 1
    • 84884416457 scopus 로고    scopus 로고
    • Rare-disease genetics in the era of next-generation sequencing: discovery to translation
    • Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE. 2013. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genetics 14:681-691.
    • (2013) Nat Rev Genetics , vol.14 , pp. 681-691
    • Boycott, K.M.1    Vanstone, M.R.2    Bulman, D.E.3    MacKenzie, A.E.4
  • 8
    • 84898405421 scopus 로고    scopus 로고
    • The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders
    • Shashi V, McConkie-Rosell A, Rosell B, Schoch K, Vellore K, McDonald M, Jiang YH, Xie P, Need A, Goldstein DG. 2013. The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genet Med 16:176-182.
    • (2013) Genet Med , vol.16 , pp. 176-182
    • Shashi, V.1    McConkie-Rosell, A.2    Rosell, B.3    Schoch, K.4    Vellore, K.5    McDonald, M.6    Jiang, Y.H.7    Xie, P.8    Need, A.9    Goldstein, D.G.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.