메뉴 건너뛰기




Volumn 34, Issue 5, 2010, Pages 386-395

A statistical method for scanning the genome for regions with rare disease alleles

Author keywords

Case control study; DNA sequencing; Genetic association; Hidden Markov model; Rare disease alleles

Indexed keywords

ARTICLE; CASE REPORT; DISEASE PREDISPOSITION; DNA SEQUENCE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME; HUMAN; RARE DISEASE;

EID: 77954196471     PISSN: 07410395     EISSN: 10982272     Source Type: Journal    
DOI: 10.1002/gepi.20483     Document Type: Article
Times cited : (3)

References (44)
  • 2
    • 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
  • 5
    • 33750953227 scopus 로고    scopus 로고
    • Whole-genome re-sequencing
    • Bentley DR. 2006. Whole-genome re-sequencing. Curr Opin Genet Dev 16:545-552.
    • (2006) Curr Opin Genet Dev , vol.16 , pp. 545-552
    • Bentley, D.R.1
  • 6
    • 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
  • 7
    • 3843056691 scopus 로고    scopus 로고
    • Multiple rare alleles contribute to low plasma levels of HDL cholesterol
    • DOI 10.1126/science.1099870
    • Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, Hobbs HH. 2004. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305:869-872. (Pubitemid 39038422)
    • (2004) Science , vol.305 , Issue.5685 , pp. 869-872
    • Cohen, J.C.1    Kiss, R.S.2    Pertsemlidis, A.3    Marcel, Y.L.4    McPherson, R.5    Hobbs, H.H.6
  • 8
    • 13944265645 scopus 로고    scopus 로고
    • Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
    • Cohen J, Pertsemlidis A, Kotowski IK, Graham R, Garcia CK, Hobbs HH. 2005. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet 37:161-165.
    • (2005) Nat Genet , vol.37 , pp. 161-165
    • Cohen, J.1    Pertsemlidis, A.2    Kotowski, I.K.3    Graham, R.4    Garcia, C.K.5    Hobbs, H.H.6
  • 15
    • 65949107547 scopus 로고    scopus 로고
    • Common genetic variation and human traits
    • Goldstein DB. 2009. Common genetic variation and human traits. N Engl J Med 360:1696-1698.
    • (2009) N Engl J Med , vol.360 , pp. 1696-1698
    • Goldstein, D.B.1
  • 16
    • 38749145596 scopus 로고    scopus 로고
    • Shifting paradigm of association studies: Value of rare single-nucleotide polymorphisms
    • Gorlov IP, Gorlova OY, Sunyaev SR, Spitz MR, Amos CI. 2008. Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. Am J Hum Genet 82:100-112.
    • (2008) Am J Hum Genet , vol.82 , pp. 100-112
    • Gorlov, I.P.1    Gorlova, O.Y.2    Sunyaev, S.R.3    Spitz, M.R.4    Amos, C.I.5
  • 17
    • 65949124249 scopus 로고    scopus 로고
    • Genomewide association studies - Illuminating biologic pathways
    • Hirschhorn JN. 2009. Genomewide association studies - illuminating biologic pathways. N Engl J Med 360:1699-1701.
    • (2009) N Engl J Med , vol.360 , pp. 1699-1701
    • Hirschhorn, J.N.1
  • 18
    • 13144306071 scopus 로고    scopus 로고
    • Genome-wide association studies for common diseases and complex traits
    • DOI 10.1038/nrg1521
    • Hirschhorn JN, Daly MJ. 2005. Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 6:95-108. (Pubitemid 40179532)
    • (2005) Nature Reviews Genetics , vol.6 , Issue.2 , pp. 95-108
    • Hirschhorn, J.N.1    Daly, M.J.2
  • 19
    • 84934435358 scopus 로고    scopus 로고
    • Confounding in genetic association studies and its solutions
    • Hu D, Ziv E. 2008. Confounding in genetic association studies and its solutions. Methods Mol Biol 448:31-39.
    • (2008) Methods Mol Biol , vol.448 , pp. 31-39
    • Hu, D.1    Ziv, E.2
  • 21
    • 36549036104 scopus 로고    scopus 로고
    • The genetic basis of complex traits: Rare variants or "common gene, common disease"?
    • Iyengar SK, Elston RC. 2007. The genetic basis of complex traits: rare variants or "common gene, common disease"? Methods Mol Biol 376:71-84.
    • (2007) Methods Mol Biol , vol.376 , pp. 71-84
    • Iyengar, S.K.1    Elston, R.C.2
  • 24
    • 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
  • 25
    • 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
  • 26
    • 33748309136 scopus 로고    scopus 로고
    • Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration
    • DOI 10.1038/ng1873, PII NG1873
    • Maller J, George S, Purcell S, Fagerness J, Altshuler D, Daly MJ, Seddon JM. 2006. Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat Genet 38:1055-1059. (Pubitemid 44325932)
    • (2006) Nature Genetics , vol.38 , Issue.9 , pp. 1055-1059
    • Maller, J.1    George, S.2    Purcell, S.3    Fagerness, J.4    Altshuler, D.5    Daly, M.J.6    Seddon, J.M.7
  • 27
    • 43049146524 scopus 로고    scopus 로고
    • A HapMap harvest of insights into the genetics of common disease
    • DOI 10.1172/JCI34772
    • Manolio TA, Brooks LD, Collins FS. 2008. A HapMap harvest of insights into the genetics of common disease. J Clin Invest 118:1590-1605. (Pubitemid 351632361)
    • (2008) Journal of Clinical Investigation , vol.118 , Issue.5 , pp. 1590-1605
    • Manolio, T.A.1    Brooks, L.D.2    Collins, F.S.3
  • 29
    • 39649117755 scopus 로고    scopus 로고
    • The impact of next-generation sequencing technology on genetics
    • Mardis ER. 2008. The impact of next-generation sequencing technology on genetics. Trends Genet 24:133-141.
    • (2008) Trends Genet , vol.24 , pp. 133-141
    • Mardis, E.R.1
  • 31
    • 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
  • 32
    • 0034969437 scopus 로고    scopus 로고
    • Are rare variants responsible for susceptibility to complex diseases?
    • Pritchard JK. 2001. Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 69:124-137.
    • (2001) Am J Hum Genet , vol.69 , pp. 124-137
    • Pritchard, J.K.1
  • 33
    • 0036799545 scopus 로고    scopus 로고
    • The allelic architecture of human disease genes: Common disease-common variantyor not?
    • Pritchard JK, Cox NJ. 2002. The allelic architecture of human disease genes: common disease-common variantyor not? Hum Mol Genet 11:2417-2423.
    • (2002) Hum Mol Genet , vol.11 , pp. 2417-2423
    • Pritchard, J.K.1    Cox, N.J.2
  • 34
    • 0035451780 scopus 로고    scopus 로고
    • On the allelic spectrum of human disease
    • Reich DE, Lander ES. 2001. On the allelic spectrum of human disease. Trends Genet 17:502-510.
    • (2001) Trends Genet , vol.17 , pp. 502-510
    • Reich, D.E.1    Lander, E.S.2
  • 35
    • 34047177395 scopus 로고    scopus 로고
    • Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL
    • DOI 10.1038/ng1984, PII NG1984
    • Romeo S, Pennacchio LA, Fu Y, Boerwinkle E, Tybjaerg-Hansen A, Hobbs HH, Cohen JC. 2007. Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat Genet 39:513-516. (Pubitemid 46514768)
    • (2007) Nature Genetics , vol.39 , Issue.4 , pp. 513-516
    • Romeo, S.1    Pennacchio, L.A.2    Fu, Y.3    Boerwinkle, E.4    Tybjaerg-Hansen, A.5    Hobbs, H.H.6    Cohen, J.C.7
  • 37
    • 38349178429 scopus 로고    scopus 로고
    • Novel rare mutations and promoter haplotypes in ABCA1 contribute to low-HDL-C levels
    • Slatter TL, Jones GT, Williams MJ, van Rij AM, McCormick SP. 2008. Novel rare mutations and promoter haplotypes in ABCA1 contribute to low-HDL-C levels. Clin Genet 73:179-184.
    • (2008) Clin Genet , vol.73 , pp. 179-184
    • Slatter, T.L.1    Jones, G.T.2    Williams, M.J.3    Van Rij, A.M.4    McCormick, S.P.5
  • 38
    • 0036798007 scopus 로고    scopus 로고
    • The allelic structure of common disease
    • Smith DJ, Lusis AJ. 2002. The allelic structure of common disease. Hum Mol Genet 11:2455-2461.
    • (2002) Hum Mol Genet , vol.11 , pp. 2455-2461
    • Smith, D.J.1    Lusis, A.J.2
  • 39
    • 34047130670 scopus 로고    scopus 로고
    • The resequencing imperative
    • Topol EJ, Frazer KA. 2007. The resequencing imperative. Nat Genet 39:439-440.
    • (2007) Nat Genet , vol.39 , pp. 439-440
    • Topol, E.J.1    Frazer, K.A.2
  • 40
    • 68249092574 scopus 로고    scopus 로고
    • Massively parallel sequencing: The next big thing in genetic medicine
    • Tucker T, Marra M, Friedman JM. 2009. Massively parallel sequencing: the next big thing in genetic medicine. Am J Hum Genet 85:142-154.
    • (2009) Am J Hum Genet , vol.85 , pp. 142-154
    • Tucker, T.1    Marra, M.2    Friedman, J.M.3
  • 41
    • 42649123990 scopus 로고    scopus 로고
    • Sizing up human height variation
    • Visscher PM. 2008. Sizing up human height variation. Nat Genet 40:489-490.
    • (2008) Nat Genet , vol.40 , pp. 489-490
    • Visscher, P.M.1
  • 43
    • 0002920493 scopus 로고
    • Adaptation and selection
    • Jepson G, Simpson G, Mayr E, editors. Princeton: Princeton University Press
    • Wright S. 1949. Adaptation and selection. In: Jepson G, Simpson G, Mayr E, editors. Genetics, Palaeontology and Evolution. Princeton: Princeton University Press.
    • (1949) Genetics, Palaeontology and Evolution
    • Wright, S.1
  • 44
    • 42349106044 scopus 로고    scopus 로고
    • Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
    • DOI 10.1038/ng.120, PII NG120
    • Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL, Hu T, de Bakker PI, Abecasis GR, Almgren P, Andersen G, Ardlie K, Boström KB, Bergman RN, Bonnycastle LL, Borch-Johnsen K, Burtt NP, Chen H, Chines PS, Daly MJ, Deodhar P, Ding CJ, Doney AS, Duren WL, Elliott KS, Erdos MR, Frayling TM, Freathy RM, Gianniny L, Grallert H, Grarup N, Groves CJ, Guiducci C, Hansen T, Herder C, Hitman GA, Hughes TE, Isomaa B, Jackson AU, Jørgensen T, Kong A, Kubalanza K, Kuruvilla FG, Kuusisto J, Langenberg C, Lango H, Lauritzen T, Li Y, Lindgren CM, Lyssenko V, Marvelle AF, Meisinger C, Midthjell K, Mohlke KL, Morken MA, Morris AD, Narisu N, Nilsson P, Owen KR, Palmer CN, Payne F, Perry JR, Pettersen E, Platou C, Prokopenko I, Qi L, Qin L, Rayner NW, Rees M, Roix JJ, Sandbaek A, Shields B, Sjögren M, Steinthorsdottir V, Stringham HM, Swift AJ, Thorleifsson G, Thorsteinsdottir U, Timpson NJ, Tuomi T, Tuomilehto J, Walker M, Watanabe RM, Weedon MN, Willer CJ; Wellcome Trust Case Control Consortium, Illig T, Hveem K, Hu FB, Laakso M, Stefansson K, Pedersen O, Wareham NJ, Barroso I, Hattersley AT, Collins FS, Groop L, McCarthy MI, Boehnke M, Altshuler D. 2008. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet 40:638-645. (Pubitemid 351601209)
    • (2008) Nature Genetics , vol.40 , Issue.5 , pp. 638-645
    • Zeggini, E.1    Scott, L.J.2    Saxena, R.3    Voight, B.F.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.