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Volumn 36, Issue 7, 2012, Pages 675-685

A Fast and Noise-Resilient Approach to Detect Rare-Variant Associations With Deep Sequencing Data for Complex Disorders

Author keywords

Complex disorders; Rare variant analysis; Whole genome sequencing

Indexed keywords

ARTICLE; GENE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC VARIABILITY; HUMAN; PERFORMANCE; SEQUENCE ANALYSIS; SIGMA P METHOD; STATISTICAL ANALYSIS; STATISTICAL SIGNIFICANCE; SYSTEMATIC ERROR;

EID: 84867555327     PISSN: 07410395     EISSN: 10982272     Source Type: Journal    
DOI: 10.1002/gepi.21662     Document Type: Article
Times cited : (17)

References (38)
  • 3
    • 77958102016 scopus 로고    scopus 로고
    • Statistical analysis strategies for association studies involving rare variants
    • Bansal V, Libiger O, Torkamani A, Schork NJ. 2010. Statistical analysis strategies for association studies involving rare variants. Nat Rev Genet 11:773-785.
    • (2010) Nat Rev Genet , vol.11 , pp. 773-785
    • Bansal, V.1    Libiger, O.2    Torkamani, A.3    Schork, N.J.4
  • 4
    • 0024826207 scopus 로고
    • On alleged gains in power from lower P-values
    • Barnard GA. 1989. On alleged gains in power from lower P-values. Stat Med 8:1469-1477.
    • (1989) Stat Med , vol.8 , pp. 1469-1477
    • Barnard, G.A.1
  • 6
    • 44349132708 scopus 로고    scopus 로고
    • Common and rare variants in multifactorial susceptibility to common diseases
    • Bodmer W, Bonilla C. 2008. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 40:695-701.
    • (2008) Nat Genet , vol.40 , pp. 695-701
    • Bodmer, W.1    Bonilla, C.2
  • 8
    • 84867506780 scopus 로고    scopus 로고
    • Stratification-score matching improves correction for confounding by population stratification in case-control association studies
    • Epstein MP, Duncan R, Broadaway A, He M, Allen AS, Satten GA. 2012. Stratification-score matching improves correction for confounding by population stratification in case-control association studies. Genet Epidemiol 36:195-205.
    • (2012) Genet Epidemiol , vol.36 , pp. 195-205
    • Epstein, M.P.1    Duncan, R.2    Broadaway, A.3    He, M.4    Allen, A.S.5    Satten, G.A.6
  • 9
    • 33745347447 scopus 로고    scopus 로고
    • The distribution of fitness effects of new deleterious amino acid mutations in humans
    • Eyre-Walker A, Woolfit M, Phelps T. 2006. The distribution of fitness effects of new deleterious amino acid mutations in humans. Genetics 173:891-900.
    • (2006) Genetics , vol.173 , pp. 891-900
    • Eyre-Walker, A.1    Woolfit, M.2    Phelps, T.3
  • 11
    • 77951028197 scopus 로고    scopus 로고
    • A data-adaptive sum test for disease association with multiple common or rare variants
    • Han F, Pan W. 2010. A data-adaptive sum test for disease association with multiple common or rare variants. Hum Hered 70:42-54.
    • (2010) Hum Hered , vol.70 , pp. 42-54
    • Han, F.1    Pan, W.2
  • 12
    • 79952253512 scopus 로고    scopus 로고
    • A new testing strategy to identify rare variants with either risk or protective effect on disease
    • Ionita-Laza I, Buxbaum JD, Laird NM, Lange C. 2011. A new testing strategy to identify rare variants with either risk or protective effect on disease. PLoS Genet 7, e10001289.
    • (2011) PLoS Genet , vol.7
    • Ionita-Laza, I.1    Buxbaum, J.D.2    Laird, N.M.3    Lange, C.4
  • 16
    • 79955372100 scopus 로고    scopus 로고
    • Defining rare variants by their frequencies in controls may increase type I error
    • Lemire M. 2011. Defining rare variants by their frequencies in controls may increase type I error. Nat Genet 43:391-392.
    • (2011) Nat Genet , vol.43 , pp. 391-392
    • Lemire, M.1
  • 17
    • 50949095168 scopus 로고    scopus 로고
    • Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data
    • Li B, Leal SM. 2008. Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet 83:311-321.
    • (2008) Am J Hum Genet , vol.83 , pp. 311-321
    • Li, B.1    Leal, S.M.2
  • 18
    • 80052731371 scopus 로고    scopus 로고
    • A general framework for detecting disease associations with rare variants in sequencing studies
    • Lin DY, Tang ZZ. 2011. A general framework for detecting disease associations with rare variants in sequencing studies. Am J Hum Genet 89:354-367.
    • (2011) Am J Hum Genet , vol.89 , pp. 354-367
    • Lin, D.Y.1    Tang, Z.Z.2
  • 19
    • 78449245227 scopus 로고    scopus 로고
    • A novel adaptive method for the analysis of next-generation sequencing data to detect complex trait associations with rare variants due to gene main effects and interactions
    • Liu DJ, Leal SM. 2010. A novel adaptive method for the analysis of next-generation sequencing data to detect complex trait associations with rare variants due to gene main effects and interactions. PLoS Genet 6, e10001156.
    • (2010) PLoS Genet , vol.6
    • Liu, D.J.1    Leal, S.M.2
  • 20
    • 61449168010 scopus 로고    scopus 로고
    • A groupwise association test for rare mutations using a weighted sum statistic
    • Madsen BE, Browning SR. 2009. A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet 5, e1000384.
    • (2009) PLoS Genet , vol.5
    • Madsen, B.E.1    Browning, S.R.2
  • 21
    • 33846014328 scopus 로고    scopus 로고
    • A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST)
    • Morgenthaler S, Thilly WG. 2007. A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST). Mutat Res 615(1-2):28-56.
    • (2007) Mutat Res , vol.615 , Issue.1-2 , pp. 28-56
    • Morgenthaler, S.1    Thilly, W.G.2
  • 22
    • 76649136928 scopus 로고    scopus 로고
    • An evaluation of statistical approaches to rare variant analysis in genetic association studies
    • Morris AP, Zeggini E. 2010. An evaluation of statistical approaches to rare variant analysis in genetic association studies. Genet Epidemiol 34:188-193.
    • (2010) Genet Epidemiol , vol.34 , pp. 188-193
    • Morris, A.P.1    Zeggini, E.2
  • 24
    • 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 JA. 2009. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 324:387-389.
    • (2009) Science , vol.324 , pp. 387-389
    • Nejentsev, S.1    Walker, N.2    Riches, D.3    Egholm, M.4    Todd, J.A.5
  • 26
    • 79955426756 scopus 로고    scopus 로고
    • Bias due to selection of rare variants using frequency in controls
    • Pearson RD. 2011. Bias due to selection of rare variants using frequency in controls. Nat Genet 43:392-393.
    • (2011) Nat Genet , vol.43 , pp. 392-393
    • Pearson, R.D.1
  • 27
    • 24644505748 scopus 로고    scopus 로고
    • simuPOP: a forward-time population genetics simulation environment
    • Peng B, Kimmel M. 2005. simuPOP: a forward-time population genetics simulation environment. Bioinformatics 21:3686-3687.
    • (2005) Bioinformatics , vol.21 , pp. 3686-3687
    • Peng, B.1    Kimmel, M.2
  • 28
    • 78650899298 scopus 로고    scopus 로고
    • Simulating sequences of the human genome with rare variants
    • Peng B, Liu X. 2010. Simulating sequences of the human genome with rare variants. Hum Hered 70:287-291.
    • (2010) Hum Hered , vol.70 , pp. 287-291
    • Peng, B.1    Liu, X.2
  • 30
    • 0025019555 scopus 로고
    • Linkage strategies for genetically complex traits. I. Multilocus models
    • Risch N. 1990. Linkage strategies for genetically complex traits. I. Multilocus models. Am J Hum Genet 46:222-228.
    • (1990) Am J Hum Genet , vol.46 , pp. 222-228
    • Risch, N.1
  • 32
  • 37
    • 0002920493 scopus 로고
    • Adaptation and selection
    • Jepson GL, Simpson GG, Mayr E (Eds.), Princeton: Princeton University Press
    • Wright S. 1949. Adaptation and selection. In: Jepson GL, Simpson GG, Mayr E (Eds.), Genetics, Paleontology, and Evolution. Princeton: Princeton University Press. p 365-389.
    • (1949) Genetics, Paleontology, and Evolution , pp. 365-389
    • Wright, S.1
  • 38
    • 80051499915 scopus 로고    scopus 로고
    • Rare-variant association testing for sequencing data with the sequence kernel association test
    • Wu MC, Lee S, Cai T, Li Y, Boehnke M, Lin X. 2011. Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet 89:82-93.
    • (2011) Am J Hum Genet , vol.89 , pp. 82-93
    • Wu, M.C.1    Lee, S.2    Cai, T.3    Li, Y.4    Boehnke, M.5    Lin, X.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.