메뉴 건너뛰기




Volumn 5, Issue SUPPL. 9, 2011, Pages

Identification of functional genetic variation in exome sequence analysis

Author keywords

[No Author keywords available]

Indexed keywords

ALGORITHM; CONFERENCE PAPER; EXOME; GENETIC IDENTIFICATION; GENETIC VARIABILITY; PILOT STUDY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIMULATION; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 82455183342     PISSN: None     EISSN: 17536561     Source Type: Journal    
DOI: 10.1186/1753-6561-5-S9-S13     Document Type: Conference Paper
Times cited : (9)

References (12)
  • 3
    • 77956534324 scopus 로고    scopus 로고
    • ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
    • 10.1093/nar/gkq603 20601685
    • ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Wang K, Li M, Hakonarson H, Nucleic Acids Res 2010 38 164 10.1093/nar/gkq603 20601685
    • (2010) Nucleic Acids Res , vol.38 , pp. 5164
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 4
    • 0040920369 scopus 로고    scopus 로고
    • National Center for Biotechnology Information McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD) http://www.ncbi.nlm.nih.gov/omim/
    • Online Mendelian Inheritance in Man, OMIM. National Center for Biotechnology Information, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD) 2011 http://www.ncbi.nlm.nih.gov/omim/
    • (2011) Online Mendelian Inheritance in Man, OMIM
  • 6
    • 22244437614 scopus 로고    scopus 로고
    • Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity
    • DOI 10.1101/gr.3804205
    • Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity. Stone EA, Sidow A, Genome Res 2005 15 978 986 10.1101/gr.3804205 15965030 (Pubitemid 40994218)
    • (2005) Genome Research , vol.15 , Issue.7 , pp. 978-986
    • Stone, E.A.1    Sidow, A.2
  • 7
    • 0035026704 scopus 로고    scopus 로고
    • Predicting deleterious amino acid substitutions
    • DOI 10.1101/gr.176601
    • Predicting deleterious amino acid substitutions. Ng PC, Henikoff S, Genome Res 2001 11 863 874 10.1101/gr.176601 11337480 (Pubitemid 32447869)
    • (2001) Genome Research , vol.11 , Issue.5 , pp. 863-874
    • Ng, P.C.1    Henikoff, S.2
  • 8
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • DOI 10.1093/nar/gkg509
    • SIFT: Predicting amino acid changes that affect protein function. Ng PC, Henikoff S, Nucleic Acids Res 2003 31 3812 3814 10.1093/nar/gkg509 12824425 (Pubitemid 37442253)
    • (2003) Nucleic Acids Research , vol.31 , Issue.13 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 11
    • 49149115625 scopus 로고    scopus 로고
    • Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2
    • 10.1038/nm.1719 18607349
    • Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2. Kuznetsov SG, Liu P, Sharan SK, Nat Med 2008 14 875 881 10.1038/nm.1719 18607349
    • (2008) Nat Med , vol.14 , pp. 875-881
    • Kuznetsov, S.G.1    Liu, P.2    Sharan, S.K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.