메뉴 건너뛰기




Volumn 850, Issue , 2012, Pages 453-464

Detecting rare variants

Author keywords

Aggregation; Collapsing; Common disease common variants; Common disease rare variants; GWA; Haplotype; SNPs

Indexed keywords

ARTICLE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; POPULATION GENETICS; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84863238106     PISSN: 10643745     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-61779-555-8_24     Document Type: Article
Times cited : (6)

References (28)
  • 3
    • 79959503826 scopus 로고    scopus 로고
    • The international HapMap project
    • The International HapMap Consortium
    • The International HapMap Consortium (2003) The International HapMap Project. Nature 426: 789-796
    • (2003) Nature , vol.426 , pp. 789-796
  • 5
    • 84984932946 scopus 로고    scopus 로고
    • Population genetics - Making sense out of sequence
    • DOI 10.1038/4482
    • Chakravarti A (1999) Population geneticsmaking sense out of sequence. Nat Genet 21: 56-60 (Pubitemid 29031494)
    • (1999) Nature Genetics , vol.21 , Issue.1 SUPPL. , pp. 56-60
    • Chakravarti, A.1
  • 6
    • 0029805706 scopus 로고    scopus 로고
    • The new genomics: Global views of biology
    • DOI 10.1126/science.274.5287.536
    • Lander ES (1996) The new genomics: global views of biology. Science 274: 536-539 (Pubitemid 26360427)
    • (1996) Science , vol.274 , Issue.5287 , pp. 536-539
    • Lander, E.S.1
  • 7
    • 84969213492 scopus 로고    scopus 로고
    • Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
    • Consortium WTCC
    • Consortium WTCC (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447: 661-678
    • (2007) Nature , vol.447 , pp. 661-678
  • 12
    • 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, Bonilla C (2008) Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 40: 695-701 (Pubitemid 351748875)
    • (2008) Nature Genetics , vol.40 , Issue.6 , pp. 695-701
    • Bodmer, W.1    Bonilla, C.2
  • 14
    • 38749145596 scopus 로고    scopus 로고
    • Shifting paradigm of association studies, value of rare single-nucleotide polymorphisms
    • DOI 10.1016/j.ajhg.2007.09.006, PII S0002929707000122
    • Gorlov IP, Gorlova OY, Sunyaev SR et al (2008) Shifting paradigm of association studies, value of rare single-nucleotide polymorphisms. Am J Hum Genet 82: 100-112 (Pubitemid 351726083)
    • (2008) American Journal of Human Genetics , vol.82 , Issue.1 , pp. 100-112
    • Gorlov, I.P.1    Gorlova, O.Y.2    Sunyaev, S.R.3    Spitz, M.R.4    Amos, C.I.5
  • 15
    • 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
  • 16
    • 55449120805 scopus 로고    scopus 로고
    • Genetic mapping in human disease
    • Altshuler D, Daly MJ, Lander ES (2008) Genetic mapping in human disease. Science 322: 881-888
    • (2008) Science , vol.322 , pp. 881-888
    • Altshuler, D.1    Daly, M.J.2    Lander, E.S.3
  • 17
    • 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)
    • DOI 10.1016/j.mrfmmm.2006.09.003, PII S0027510706002740
    • 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 (Pubitemid 46054081)
    • (2007) Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis , vol.615 , Issue.1-2 , pp. 28-56
    • Morgenthaler, S.1    Thilly, W.G.2
  • 18
    • 61449168010 scopus 로고    scopus 로고
    • A group wise association test for rare mutations using a weighted sum statistic
    • doi:10.1371/journal.pgen.1000384
    • Madsen BE, Browning SR (2009) A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic. PLoS Genet doi:10.1371/journal.pgen. 1000384
    • (2009) PLoS Genet
    • Madsen, B.E.1    Browning, S.R.2
  • 19
    • 77953121877 scopus 로고    scopus 로고
    • Pooled association tests for rare variants in exon-resequencing studies
    • Price AL et al (2010) Pooled association tests for rare variants in exon-resequencing studies. Am J Hum Genet 86: 832-838
    • (2010) Am J Hum Genet , vol.86 , pp. 832-838
    • Price, A.L.1
  • 20
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: Server and survey
    • Ramensky V, Bork P, Sunyaev S (2002) Human Nonsynonymous SNPs: server and survey. Nucleic Acids Res 30: 3894-3900 (Pubitemid 35012462)
    • (2002) Nucleic Acids Research , vol.30 , Issue.17 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 21
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei IA, Schmidt S, Peshkin L et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249
    • (2010) Nat Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3
  • 22
    • 76649122154 scopus 로고    scopus 로고
    • Detecting rare variants for complex traits using family and unrelated data
    • Zhu X, Feng T, Li Y, Lu Q, Elston RC (2010) Detecting rare variants for complex traits using family and unrelated data. Genet Epidemiol 34: 171-187
    • (2010) Genet Epidemiol , vol.34 , pp. 171-187
    • Zhu, X.1    Feng, T.2    Li, Y.3    Lu, Q.4    Elston, R.C.5
  • 23
    • 77954205086 scopus 로고    scopus 로고
    • Detecting genomewide haplotype polymorphism by combined use of mendelian constraints and local population structure
    • Li X, Chen Y, Li J (2010) Detecting genomewide haplotype polymorphism by combined use of mendelian constraints and local population structure. Pac Symp Biocomput 15: 348-358.
    • (2010) Pac Symp Biocomput , vol.15 , pp. 348-358
    • Li, X.1    Chen, Y.2    Li, J.3
  • 24
    • 0242691208 scopus 로고    scopus 로고
    • A comparison of Bayesian methods for haplotype reconstruction from population genotype data
    • DOI 10.1086/379378
    • Stephens M, Donnelly P (2003) A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 73: 1162-1169 (Pubitemid 37414228)
    • (2003) American Journal of Human Genetics , vol.73 , Issue.5 , pp. 1162-1169
    • Stephens, M.1    Donnelly, P.2
  • 25
    • 0035071957 scopus 로고    scopus 로고
    • A new statistical method for haplotype reconstruction from population data
    • DOI 10.1086/319501
    • Stephens M, Smith N, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68: 978-989 (Pubitemid 32289743)
    • (2001) American Journal of Human Genetics , vol.68 , Issue.4 , pp. 978-989
    • Stephens, M.1    Smith, N.J.2    Donnelly, P.3
  • 26
    • 33644974019 scopus 로고    scopus 로고
    • A fast and flexible statistical model for large-scale population genotype data: Applications to inferring missing genotypes and haplotypic phase
    • Scheet P, Stephens M(2006) A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am J Hum Genet 78: 629-644
    • (2006) Am J Hum Genet , vol.78 , pp. 629-644
    • Scheet, P.1    Stephens, M.2
  • 27
    • 35348817330 scopus 로고    scopus 로고
    • Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering
    • DOI 10.1086/521987
    • Browning SR, Browning BL (2007) Rapid and accurate haplotype phasing and missing data inference for whole genome association studies using localized haplotype clustering. Am J Hum Genet 81: 1084-1097 (Pubitemid 47580259)
    • (2007) American Journal of Human Genetics , vol.81 , Issue.5 , pp. 1084-1097
    • Browning, S.R.1    Browning, B.L.2
  • 28
    • 77956059154 scopus 로고    scopus 로고
    • Genome-wide searching of rare genetic variants in WTCCC data
    • Feng T, Zhu X (2010) Genome-wide searching of rare genetic variants in WTCCC data. Hum Genet 128: 269-280
    • (2010) Hum Genet , vol.128 , pp. 269-280
    • Feng, T.1    Zhu, X.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.