메뉴 건너뛰기




Volumn 73, Issue 2, 2012, Pages 84-94

ARIEL and AMELIA: Testing for an accumulation of rare variants using next-generation sequencing data

Author keywords

Accounting for uncertainty; Association analysis; Complex trait; Exome sequencing; Whole genome sequencing

Indexed keywords

ACCUMULATION OF RARE VARIANTS INTEGRATED AND EXTENDEND LOCUS SPECIFIC TEST; ALLELE; ALLELE MATCHING EMPIRICAL LOCUS SPECIFIC INTEGRATED ASSOCIATION TEST; ARTICLE; COMPUTER PROGRAM; GENE LOCUS; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; REGRESSION ANALYSIS;

EID: 84858729755     PISSN: 00015652     EISSN: 14230062     Source Type: Journal    
DOI: 10.1159/000336982     Document Type: Article
Times cited : (48)

References (18)
  • 3
    • 65249131713 scopus 로고    scopus 로고
    • Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
    • Nejentsev S, Walker N, Riches D, Egholm M, Todd J: Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 2009;324: 387-389.
    • (2009) Science , vol.324 , pp. 387-389
    • Nejentsev, S.1    Walker, N.2    Riches, D.3    Egholm, M.4    Todd, J.5
  • 4
    • 50949095168 scopus 로고    scopus 로고
    • Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
    • Li B, Leal S: Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet 2008;83: 311-321.
    • (2008) Am J Hum Genet , vol.83 , pp. 311-321
    • Li, B.1    Leal, S.2
  • 5
    • 44349132708 scopus 로고    scopus 로고
    • Common and rare variants in multifactorial susceptibility to common diseases
    • DOI 10.1038/ng.f.136, PII NGF136
    • Bodmer W, Bonillna C: Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 2008;40: 695-701. (Pubitemid 351748875)
    • (2008) Nature Genetics , vol.40 , Issue.6 , pp. 695-701
    • Bodmer, W.1    Bonilla, C.2
  • 6
    • 61449168010 scopus 로고    scopus 로고
    • A groupwise association test for rare mutations using a weighted sum statistic
    • DOI 10.1371/journal.pgen.1000384
    • Madsen B, Browning S: A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet 2009;5:e1000384. DOI: 10.1371/journal.pgen.1000384.
    • (2009) PLoS Genet , vol.5
    • Madsen, B.1    Browning, S.2
  • 7
    • 76649136928 scopus 로고    scopus 로고
    • An evaluation of statistical approaches to rare variant analysis in genetic association studies
    • Morris A, Zeggini E: An evaluation of statistical approaches to rare variant analysis in genetic association studies. Genet Epidemiol 2010;34: 188-193.
    • (2010) Genet Epidemiol , vol.34 , pp. 188-193
    • Morris, A.1    Zeggini, E.2
  • 8
    • 77951028197 scopus 로고    scopus 로고
    • A data-adaptive sum test for disease association with multiple common or rare variants
    • Han F, Pan W: A data-adaptive sum test for disease association with multiple common or rare variants. Hum Hered 2010;70: 42-54.
    • (2010) Hum Hered , vol.70 , pp. 42-54
    • Han, F.1    Pan, W.2
  • 9
    • 78249243049 scopus 로고    scopus 로고
    • Extending rare-variant testing strategies: Analysis of noncoding sequence and imputed genotypes
    • Zawistowski M, et al: Extending rare-variant testing strategies: analysis of noncoding sequence and imputed genotypes. Am J Hum Genet 2010;87: 604-617.
    • (2010) Am J Hum Genet , vol.87 , pp. 604-617
    • Zawistowski, M.1
  • 10
    • 77953121877 scopus 로고    scopus 로고
    • Pooled association tests for rare variants in exon-resequencing studies
    • Price A, et al: Pooled association tests for rare variants in exon-resequencing studies. Am J Hum Genet 2010;86: 832-838.
    • (2010) Am J Hum Genet , vol.86 , pp. 832-838
    • Price, A.1
  • 11
    • 78349264203 scopus 로고    scopus 로고
    • A covering method for detecting genetic associations between rare variants and common phenotypes
    • DOI: 10.1371/ journal.pcbi.1000954
    • Bhatia G, et al: A covering method for detecting genetic associations between rare variants and common phenotypes. PLoS Comput Biol 2010;6:e1000954. DOI: 10.1371/ journal.pcbi.1000954.
    • (2010) PLoS Comput Biol , vol.6
    • Bhatia, G.1
  • 12
    • 79251553463 scopus 로고    scopus 로고
    • A unified framework for multi-locus association analysis of both common and rare variants
    • Shriner D, Vaughan L: A unified framework for multi-locus association analysis of both common and rare variants. BMC Genomics 2011;12: 89.
    • (2011) BMC Genomics , vol.12 , pp. 89
    • Shriner, D.1    Vaughan, L.2
  • 13
    • 79952253512 scopus 로고    scopus 로고
    • A new testing strategy to identify rare variants with either risk or protective effect on disease
    • DOI 10.1371/journal.pgen.1001289
    • Ionita-Laza I, Buxbaum J, Laird N, Lange C: A new testing strategy to identify rare variants with either risk or protective effect on disease. PLoS Genet 2011;7:e1001289. DOI: 10.1371/journal.pgen.1001289.
    • (2011) PLoS Genet , vol.7
    • Ionita-Laza, I.1    Buxbaum, J.2    Laird, N.3    Lange, C.4
  • 14
    • 79953752624 scopus 로고    scopus 로고
    • Testing for an unusual distribution of rare variants
    • DOI 10.1371/journal.pgen. 1001322
    • Neale B, et al: Testing for an unusual distribution of rare variants. PLoS Genet 2011;7:e1001322. DOI: 10.1371/journal.pgen. 1001322.
    • (2011) PLoS Genet , vol.7
    • Neale, B.1
  • 15
    • 77949776227 scopus 로고    scopus 로고
    • Association tests using kernel-based measures of multi-locus genotype similarity between individuals
    • Mukhopadhyay I, Feingold E, Weeks D, Thalamuthu A: Association tests using kernel-based measures of multi-locus genotype similarity between individuals. Genet Epidemiol 2010;34: 213-221.
    • (2010) Genet Epidemiol , vol.34 , pp. 213-221
    • Mukhopadhyay, I.1    Feingold, E.2    Weeks, D.3    Thalamuthu, A.4
  • 16
    • 77958067631 scopus 로고    scopus 로고
    • CCRaVAT and QuTieenabling analysis of rare variants in largescale case control and quantitative trait association studies
    • Lawrence R, Day-Williams AG, Elliot KS, Morris AP, Zeggini E: CCRaVAT and QuTieenabling analysis of rare variants in largescale case control and quantitative trait association studies. BMC Bioinformatics 2010;11: 527.
    • (2010) BMC Bioinformatics , vol.11 , pp. 527
    • Lawrence, R.1    Day-Williams, A.G.2    Elliot, K.S.3    Morris, A.P.4    Zeggini, E.5
  • 17
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • Durbin R, et al: A map of human genome variation from population-scale sequencing. Nature 2010;467: 1061-1073.
    • (2010) Nature , vol.467 , pp. 1061-1073
    • Durbin, R.1
  • 18
    • 28444495087 scopus 로고    scopus 로고
    • HapSim: A simulation tool for generating haplotype data with pre-specified allele frequencies and LD coefficients
    • DOI 10.1093/bioinformatics/bti689
    • Montana G: HapSim: a simulation tool for generating haplotype data with pre-specified allele frequencies and LD coefficients. Bioinformatics 2005;21: 4309-4311. (Pubitemid 41724314)
    • (2005) Bioinformatics , vol.21 , Issue.23 , pp. 4309-4311
    • Montana, G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.