메뉴 건너뛰기




Volumn 41, Issue 16, 2013, Pages

MiST: A new approach to variant detection in deep sequencing datasets

Author keywords

[No Author keywords available]

Indexed keywords

ANALYTICAL ERROR; ARTICLE; CLINICAL ASSESSMENT TOOL; EXON; GENE MAPPING; GENE SEQUENCE; GENE TARGETING; GENETIC DATABASE; GENETIC VARIABILITY; GENOME ANALYSIS; INTERMETHOD COMPARISON; MATHEMATICAL COMPUTING; MOLECULAR CLONING; PARALOGY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; ALGORITHM; CHEMISTRY; GENOMICS; HIGH THROUGHPUT SEQUENCING; HUMAN; METHODOLOGY; SEQUENCE ALIGNMENT;

EID: 84886868191     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gkt551     Document Type: Article
Times cited : (5)

References (22)
  • 5
    • 84890278934 scopus 로고    scopus 로고
    • FreeBayes - the MarthLab
    • FreeBayes - the MarthLab. http://bioinformatics.bc.edu/marthlab/ FreeBayes.
  • 7
    • 84855417495 scopus 로고    scopus 로고
    • Customisation of the exome data analysis pipeline using a combinatorial approach
    • Pattnaik,S., Vaidyanathan,S., Pooja,D.G., Deepak,S. and Panda,B. (2012) Customisation of the exome data analysis pipeline using a combinatorial approach. PLoS One, 7, e30080.
    • (2012) PLoS One , vol.7
    • Pattnaik, S.1    Vaidyanathan, S.2    Pooja, D.G.3    Deepak, S.4    Panda, B.5
  • 10
    • 77956534324 scopus 로고    scopus 로고
    • ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
    • Wang,K., Li,M. and Hakonarson,H. (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res., 38, e164-e164.
    • (2010) Nucleic Acids Res. , vol.38
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 11
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • Ng,P.C. and Henikoff,S. (2003) SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res., 31, 3812-3814.
    • (2003) Nucleic Acids Res. , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 12
  • 15
    • 84861063896 scopus 로고    scopus 로고
    • SNPedia: A wiki supporting personal genome annotation, interpretation and analysis
    • Cariaso,M. and Lennon,G. (2012) SNPedia: a wiki supporting personal genome annotation, interpretation and analysis. Nucleic Acids Res., 40, D1308-D1312.
    • (2012) Nucleic Acids Res. , vol.40
    • Cariaso, M.1    Lennon, G.2
  • 16
    • 82755166898 scopus 로고    scopus 로고
    • From pharmacogenomic knowledge acquisition to clinical applications: The PharmGKB as a clinical pharmacogenomic biomarker resource
    • McDonagh,E.M., Whirl-Carrillo,M., Garten,Y., Altman,R.B. and Klein,T.E. (2011) From pharmacogenomic knowledge acquisition to clinical applications: the PharmGKB as a clinical pharmacogenomic biomarker resource. Biomark. Med., 5, 795-806.
    • (2011) Biomark. Med. , vol.5 , pp. 795-806
    • McDonagh, E.M.1    Whirl-Carrillo, M.2    Garten, Y.3    Altman, R.B.4    Klein, T.E.5
  • 19
    • 0142092542 scopus 로고    scopus 로고
    • Single nucleotide variation analysis in 65 candidate genes for CNS disorders in a representative sample of the european population
    • Freudenberg-Hua,Y., Freudenberg,J., Kluck,N., Cichon,S., Propping,P. and Nthen,M.M. (2003) Single nucleotide variation analysis in 65 candidate genes for CNS disorders in a representative sample of the european population. Genome Res., 13, 2271-2276.
    • (2003) Genome Res. , vol.13 , pp. 2271-2276
    • Freudenberg-Hua, Y.1    Freudenberg, J.2    Kluck, N.3    Cichon, S.4    Propping, P.5    Nthen, M.M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.