메뉴 건너뛰기




Volumn 35, Issue SUPPL. 1, 2011, Pages

Statistical analysis of rare sequence variants: An overview of collapsing methods

Author keywords

Association; Collapsing methods; Collection of rare variants; Common disease rare variant hypothesis; Contingency table; Generalized linear model; Next generation sequencing; Pooling methods

Indexed keywords

ALLELE; ARTICLE; BASE PAIRING; COCHRAN ARMITAGE TREND TEST; COLLAPSING AND SUMMATION TEST; EFFECT SIZE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; LOGISTIC REGRESSION ANALYSIS; MATHEMATICAL VARIABLE; MULTIVARIATE ANALYSIS; PERMUTATION; RANK SUM TEST; REGION OF INTEREST; SEQUENCE ALIGNMENT; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; STANDARD; STATISTICAL ANALYSIS; STATISTICAL SIGNIFICANCE; VARIABLE THRESHOLD COLLAPSING METHOD; WEIGHTED SUM COLLAPSING APPROACH;

EID: 82455192533     PISSN: 07410395     EISSN: 10982272     Source Type: Journal    
DOI: 10.1002/gepi.20643     Document Type: Article
Times cited : (96)

References (31)
  • 1
    • 77958088279 scopus 로고    scopus 로고
    • Rare variant association analysis methods for complex traits
    • Asimit J, Zeggini E. 2010. Rare variant association analysis methods for complex traits. Annu Rev Genet 44:293-308.
    • (2010) Annu Rev Genet , vol.44 , pp. 293-308
    • Asimit, J.1    Zeggini, E.2
  • 2
    • 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
  • 3
    • 53749105617 scopus 로고    scopus 로고
    • SNAP predicts effect of mutations on protein function
    • Bromberg Y, Yachdav G, Rost B. 2008. SNAP predicts effect of mutations on protein function. Bioinformatics 24:2397-2398.
    • (2008) Bioinformatics , vol.24 , pp. 2397-2398
    • Bromberg, Y.1    Yachdav, G.2    Rost, B.3
  • 4
    • 67349166946 scopus 로고    scopus 로고
    • Genome-wide association studies: detecting gene-gene interactions that underlie human diseases
    • Cordell HJ. 2009. Genome-wide association studies: detecting gene-gene interactions that underlie human diseases. Nat Rev Genet 10:392-404.
    • (2009) Nat Rev Genet , vol.10 , pp. 392-404
    • Cordell, H.J.1
  • 7
    • 0037029395 scopus 로고    scopus 로고
    • Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease
    • Fitze G, Cramer J, Ziegler A, Schierz M, Schreiber M, Kuhlisch E, Roesner D, Schackert HK. 2002. Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease. Lancet 359:1200-1205.
    • (2002) Lancet , vol.359 , pp. 1200-1205
    • Fitze, G.1    Cramer, J.2    Ziegler, A.3    Schierz, M.4    Schreiber, M.5    Kuhlisch, E.6    Roesner, D.7    Schackert, H.K.8
  • 9
    • 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
  • 10
    • 78149479773 scopus 로고    scopus 로고
    • Comprehensive approach to analyzing rare genetic variants
    • Hoffmann TJ, Marini NJ, Witte JS. 2010. Comprehensive approach to analyzing rare genetic variants. PLoS One 5:e13584.
    • (2010) PLoS One , vol.5
    • Hoffmann, T.J.1    Marini, N.J.2    Witte, J.S.3
  • 12
    • 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
  • 13
    • 78249272314 scopus 로고    scopus 로고
    • To identify associations with rare variants, just WHaIT: weighted haplotype and imputation-based tests
    • Li Y, Byrnes AE, Li M. 2010. To identify associations with rare variants, just WHaIT: weighted haplotype and imputation-based tests. Am J Hum Genet 87:728-735.
    • (2010) Am J Hum Genet , vol.87 , pp. 728-735
    • Li, Y.1    Byrnes, A.E.2    Li, M.3
  • 14
    • 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:e1001156.
    • (2010) PLoS Genet , vol.6
    • Liu, D.J.1    Leal, S.M.2
  • 15
    • 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
  • 16
    • 55549147191 scopus 로고    scopus 로고
    • Personal genomes: the case of the missing heritability
    • Maher B. 2008. Personal genomes: the case of the missing heritability. Nature 456:18-21.
    • (2008) Nature , vol.456 , pp. 18-21
    • Maher, B.1
  • 17
    • 77954407332 scopus 로고    scopus 로고
    • Genomewide association studies and assessment of the risk of disease
    • Manolio TA. 2010. Genomewide association studies and assessment of the risk of disease. New Engl J Med 363:166-176.
    • (2010) New Engl J Med , vol.363 , pp. 166-176
    • Manolio, T.A.1
  • 19
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies: the next generation
    • Metzker ML. 2009. Sequencing technologies: the next generation. Nat Rev Genet 11:31-46.
    • (2009) Nat Rev Genet , vol.11 , pp. 31-46
    • Metzker, M.L.1
  • 20
    • 77956838065 scopus 로고    scopus 로고
    • Advances in understanding cancer genomes through second-generation sequencing
    • Meyerson M, Gabriel S, Getz G. 2010. Advances in understanding cancer genomes through second-generation sequencing. Nat Rev Genet 11:685-696.
    • (2010) Nat Rev Genet , vol.11 , pp. 685-696
    • Meyerson, M.1    Gabriel, S.2    Getz, G.3
  • 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 615:28-56.
    • (2007) Mutat Res , vol.615 , 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
  • 23
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • Ng PC, 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
  • 24
    • 77953469917 scopus 로고    scopus 로고
    • Epigenetics as a unifying principle in the aetiology of complex traits and diseases
    • Petronis A. 2010. Epigenetics as a unifying principle in the aetiology of complex traits and diseases. Nature 465:721-727.
    • (2010) Nature , vol.465 , pp. 721-727
    • Petronis, A.1
  • 26
    • 3042660387 scopus 로고    scopus 로고
    • Haplotype sharing correlation analysis using family data: a comparison with family-based association test in the presence of allelic heterogeneity
    • Qian D. 2004. Haplotype sharing correlation analysis using family data: a comparison with family-based association test in the presence of allelic heterogeneity. Genet Epidemiol 27:43-52.
    • (2004) Genet Epidemiol , vol.27 , pp. 43-52
    • Qian, D.1
  • 27
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: server and survey
    • Ramensky V, Bork P, Sunyaev S. 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    Bork, P.2    Sunyaev, S.3
  • 28
    • 82455219107 scopus 로고    scopus 로고
    • Identification of genetic association of multiple rare variants using collapsing methods
    • Sun YV, Sung YJ, Tintle N, Ziegler A. 2011. Identification of genetic association of multiple rare variants using collapsing methods. Genet Epidemiol X:X-X.
    • (2011) Genet Epidemiol , vol.10
    • Sun, Y.V.1    Sung, Y.J.2    Tintle, N.3    Ziegler, A.4
  • 29
    • 82455175499 scopus 로고    scopus 로고
    • Inflated type I error rates when using aggregation methods to analyze rare variants in the 1000 Genomes Project exon sequencing data in unrelated individuals: summary results from Group 7 at Genetic Analysis Workshop 17
    • Tintle N, Aschard H, Hu I, Nock N, Wang H, Pugh E. 2011. Inflated type I error rates when using aggregation methods to analyze rare variants in the 1000 Genomes Project exon sequencing data in unrelated individuals: summary results from Group 7 at Genetic Analysis Workshop 17. Genet Epidemiol X:X-X.
    • (2011) Genet Epidemiol , vol.10
    • Tintle, N.1    Aschard, H.2    Hu, I.3    Nock, N.4    Wang, H.5    Pugh, E.6
  • 30
    • 33645764714 scopus 로고    scopus 로고
    • SNPs3D: candidate gene and SNP selection for association studies
    • Yue P, Melamud E, Moult J. 2006. SNPs3D: candidate gene and SNP selection for association studies. BMC Bioinform 7:166.
    • (2006) BMC Bioinform , vol.7 , pp. 166
    • Yue, P.1    Melamud, E.2    Moult, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.