메뉴 건너뛰기




Volumn 29, Issue 16, 2013, Pages 2041-2043

Isaac: Ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COMPUTER PROGRAM; DNA SEQUENCE; GENETIC VARIABILITY; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN GENOME; METHODOLOGY; SEQUENCE ALIGNMENT; GENETIC VARIATION; PROCEDURES; SOFTWARE;

EID: 84881018840     PISSN: 13674803     EISSN: 14602059     Source Type: Journal    
DOI: 10.1093/bioinformatics/btt314     Document Type: Article
Times cited : (259)

References (10)
  • 1
    • 79955483667 scopus 로고    scopus 로고
    • A framework for variation discovery and genotyping using next-generation DNA sequencing data
    • DePristo, M.A. et al. (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet., 43, 491-498.
    • (2011) Nat. Genet. , vol.43 , pp. 491-498
    • Depristo, M.A.1
  • 2
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from populationscale sequencing
    • Genomes Project C
    • Genomes Project, C. (2010) A map of human genome variation from populationscale sequencing. Nature, 467, 1061-1073.
    • (2010) Nature , vol.467 , pp. 1061-1073
  • 3
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows- Wheeler transform
    • Li, H. and Durbin, R. (2009) Fast and accurate short read alignment with Burrows- Wheeler transform. Bioinformatics, 25, 1754-1760.
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 4
    • 77949587649 scopus 로고    scopus 로고
    • Fast and accurate long-read alignment with Burrows- Wheeler transform
    • Li, H. and Durbin, R. (2010) Fast and accurate long-read alignment with Burrows- Wheeler transform. Bioinformatics, 26, 589-595.
    • (2010) Bioinformatics , vol.26 , pp. 589-595
    • Li, H.1    Durbin, R.2
  • 5
    • 77956295988 scopus 로고    scopus 로고
    • The genome analysis toolkit: A mapreduce framework for analyzing next-generation DNA sequencing data
    • McKenna, A. et al. (2010) The genome analysis toolkit: a mapreduce framework for analyzing next-generation DNA sequencing data. Genome Res., 20, 1297-1303.
    • (2010) Genome Res. , vol.20 , pp. 1297-1303
    • McKenna, A.1
  • 6
    • 77955405475 scopus 로고    scopus 로고
    • Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
    • McLaren, W. et al. (2010) Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics, 26, 2069-2070.
    • (2010) Bioinformatics , vol.26 , pp. 2069-2070
    • McLaren, W.1
  • 7
    • 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
  • 8
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: Server and survey
    • Ramensky, V. et al. (2002) Human non-synonymous SNPs: server and survey. Nucleic Acids Res., 30, 3894-3900.
    • (2002) Nucleic Acids Res. , vol.30 , pp. 3894-3900
    • Ramensky, V.1
  • 9
    • 84867214350 scopus 로고    scopus 로고
    • Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
    • Saunders, C.J. et al. (2012) Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci. Transl. Med., 4, 154ra135.
    • (2012) Sci. Transl. Med. , vol.4
    • Saunders, C.J.1
  • 10
    • 0037903275 scopus 로고    scopus 로고
    • Human gene mutation database (HGMD): 2003 update
    • Stenson, P.D. et al. (2003) Human gene mutation database (HGMD): 2003 update. Hum. Mutat., 21, 577-581.
    • (2003) Hum. Mutat. , vol.21 , pp. 577-581
    • Stenson, P.D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.