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Volumn 29, Issue 1, 2013, Pages 124-125

PriVar: A toolkit for prioritizing SNVs and indels from next-generation sequencing data

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COMPUTER PROGRAM; EXOME; GENETIC LINKAGE; GENETIC VARIABILITY; HIGH THROUGHPUT SEQUENCING; HUMAN; INDEL MUTATION; MUTATION;

EID: 84871730851     PISSN: 13674803     EISSN: 14602059     Source Type: Journal    
DOI: 10.1093/bioinformatics/bts627     Document Type: Article
Times cited : (41)

References (7)
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    • Adie, E.A. et al. (2005) Speeding disease gene discovery by sequence based candidate prioritization. BMC bioinformatics, 6, 55.
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    • Adie, E.A.1
  • 2
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    • 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
  • 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
    • 79960763462 scopus 로고    scopus 로고
    • DbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions
    • Liu, X. et al. (2011) dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions. Hum. Mutat., 32, 894-899.
    • (2011) Hum. Mutat. , vol.32 , pp. 894-899
    • Liu, X.1
  • 5
    • 84864118162 scopus 로고    scopus 로고
    • Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease
    • Mao, H. et al. (2012) Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease. Genes Immun., 13, 437-442.
    • (2012) Genes Immun. , vol.13 , pp. 437-442
    • Mao, H.1
  • 6
    • 38649091333 scopus 로고    scopus 로고
    • A navigator for human genome epidemiology
    • Yu, W. et al. (2008) A navigator for human genome epidemiology. Nat. Genet., 40, 124-125.
    • (2008) Nat. Genet. , vol.40 , pp. 124-125
    • Yu, W.1
  • 7
    • 79951795825 scopus 로고    scopus 로고
    • Homozygosity mapping on a single patient: Identification of homozygous regions of recent common ancestry by using population data
    • Zhang, L. et al. (2011) Homozygosity mapping on a single patient: identification of homozygous regions of recent common ancestry by using population data. Hum. Mutat., 32, 345-353.
    • (2011) Hum. Mutat. , vol.32 , pp. 345-353
    • Zhang, L.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.