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Volumn 189, Issue 3, 2011, Pages 1061-1068

Study designs for identification of rare disease variants in complex diseases: The utility of family-based designs

Author keywords

[No Author keywords available]

Indexed keywords

ALZHEIMER DISEASE; ANALYTIC METHOD; ARTICLE; CONCEPTUAL FRAMEWORK; DISEASE CLASSIFICATION; FAMILY STUDY; GENE LOCUS; HUMAN; INDIVIDUALITY; NEOPLASM; PRIORITY JOURNAL; RARE DISEASE; RECURRENCE RISK; SEQUENCE ANALYSIS; STUDY DESIGN;

EID: 81255175654     PISSN: 00166731     EISSN: 19432631     Source Type: Journal    
DOI: 10.1534/genetics.111.131813     Document Type: Article
Times cited : (33)

References (34)
  • 1
    • 0142063079 scopus 로고    scopus 로고
    • Polygenic inheritance of breast cancer: Implications for design of association studies
    • Antoniou, A. C., and D. F. Easton, 2003 Polygenic inheritance of breast cancer: implications for design of association studies. Genet. Epidemiol. 25: 190-202
    • (2003) Genet. Epidemiol , vol.25 , pp. 190-202
    • Antoniou, A.C.1    Easton, D.F.2
  • 2
    • 77958102016 scopus 로고    scopus 로고
    • Statistical analysis strategies for association studies involving rare variants
    • Bansal, V., O. Libiger, A. Torkamani, and N. J. Schork, 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
    • 78349264203 scopus 로고    scopus 로고
    • A covering method for detecting genetic associations between rare variants and common phenotypes
    • e1000954
    • Bhatia, G., V. Bansal, O. Harismendy, N. J. Schork, E. J. Topol et al., 2010 A covering method for detecting genetic associations between rare variants and common phenotypes. PLoS Comput. Biol. 6: e1000954.
    • (2010) PLoS Comput. Biol , vol.6
    • Bhatia, G.1    Bansal, V.2    Harismendy, O.3    Schork, N.J.4    Topol, E.J.5
  • 4
    • 0019302053 scopus 로고
    • Construction of a genetic linkage map in man using restriction fragment length polymorphisms
    • Botstein, D., R. L. White, M. Skolnick, and R. W. Davis, 1980 Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am. J. Hum. Genet. 32: 314-331
    • (1980) Am. J. Hum. Genet , vol.32 , pp. 314-331
    • Botstein, D.1    White, R.L.2    Skolnick, M.3    Davis, R.W.4
  • 5
    • 0001131237 scopus 로고
    • Expected significance level as a sensitivity index for test statistics
    • Dempster, A. P., and M. Schatzoff, 1965 Expected significance level as a sensitivity index for test statistics. J. Am. Stat. Assoc. 60: 420-436
    • (1965) J. Am. Stat. Assoc , vol.60 , pp. 420-436
    • Dempster, A.P.1    Schatzoff, M.2
  • 6
    • 77951028197 scopus 로고    scopus 로고
    • A data-adaptive sum test for disease association with multiple common or rare variants
    • Han, F., and W. Pan, 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
  • 7
    • 59149096726 scopus 로고    scopus 로고
    • 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
    • Helbig, I., H. C. Mefford, A. J. Sharp, M. Guipponi, M. Fichera et al., 2009 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat. Genet. 41: 160-162
    • (2009) Nat. Genet , vol.41 , pp. 160-162
    • Helbig, I.1    Mefford, H.C.2    Sharp, A.J.3    Guipponi, M.4    Fichera, M.5
  • 8
    • 79952253512 scopus 로고    scopus 로고
    • A new testing strategy to identify rare variants with either risk or protective effect on disease
    • e1001289
    • Ionita-Laza, I., J. Buxbaum, N. M. Laird, and C. Lange, 2011 A new testing strategy to identify rare variants with either risk or protective effect on disease. PLoS Genet. 7: e1001289.
    • (2011) PLoS Genet , vol.7
    • Ionita-Laza, I.1    Buxbaum, J.2    Laird, N.M.3    Lange, C.4
  • 9
    • 42649084334 scopus 로고    scopus 로고
    • Rare independent mutations in renal salt handling genes contribute to blood pressure variation
    • Ji, W., J. N. Foo, B. J. O'Roak, H. Zhao, M. G. Larson et al., 2008 Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat. Genet. 40: 592-599
    • (2008) Nat. Genet , vol.40 , pp. 592-599
    • Ji, W.1    Foo, J.N.2    O'Roak, B.J.3    Zhao, H.4    Larson, M.G.5
  • 10
    • 78649717215 scopus 로고    scopus 로고
    • An evolutionary framework for association testing in resequencing studies
    • e1001202
    • King, C. R., P. J. Rathouz, and D. L. Nicolae, 2010 An evolutionary framework for association testing in resequencing studies. PLoS Genet. 6: e1001202.
    • (2010) PLoS Genet , vol.6
    • King, C.R.1    Rathouz, P.J.2    Nicolae, D.L.3
  • 11
    • 50949095168 scopus 로고    scopus 로고
    • Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
    • Li, B., and S. M. Leal, 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
  • 12
    • 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
    • e1001156
    • Liu, D. J., and S. M. Leal, 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(10): e1001156.
    • (2010) PLoS Genet , vol.6 , Issue.10
    • Liu, D.J.1    Leal, S.M.2
  • 13
    • 61449168010 scopus 로고    scopus 로고
    • A groupwise association test for rare mutations using a weighted sum statistic
    • e1000384
    • Madsen, B. E., and S. R. Browning, 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
  • 14
    • 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
  • 16
    • 0142209375 scopus 로고    scopus 로고
    • Genomic priorities and public health
    • Merikangas, K. R., and N. Risch, 2003 Genomic priorities and public health. Science 302: 599-601
    • (2003) Science , vol.302 , pp. 599-601
    • Merikangas, K.R.1    Risch, N.2
  • 17
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies-the next generation
    • Metzker, M. L., 2010 Sequencing technologies-the next generation. Nat. Rev. Genet. 11: 31-46
    • (2010) Nat. Rev. Genet , vol.11 , pp. 31-46
    • Metzker, M.L.1
  • 18
    • 76649136928 scopus 로고    scopus 로고
    • An evaluation of statistical approaches to rare variant analysis in genetic association studies
    • Morris, A. P., and E. Zeggini, 2009 An evaluation of statistical approaches to rare variant analysis in genetic association studies. Genet. Epidemiol. 34: 188-193
    • (2009) Genet. Epidemiol , vol.34 , pp. 188-193
    • Morris, A.P.1    Zeggini, E.2
  • 20
    • 65249131713 scopus 로고    scopus 로고
    • Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
    • Nejentsev, S., N. Walker, D. Riches, M. Egholm, and J. A. Todd, 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
  • 21
    • 1842539516 scopus 로고    scopus 로고
    • A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other
    • Nyholt, D. R., 2004 A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am. J. Hum. Genet. 74: 765-769
    • (2004) Am. J. Hum. Genet , vol.74 , pp. 765-769
    • Nyholt, D.R.1
  • 22
    • 77954657070 scopus 로고    scopus 로고
    • Functional impact of global rare copy number variation in autism spectrum disorders
    • Pinto, D., A. T. Pagnamenta, L. Klei, R. Anney, D. Merico et al., 2010 Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466: 368-372
    • (2010) Nature , vol.466 , pp. 368-372
    • Pinto, D.1    Pagnamenta, A.T.2    Klei, L.3    Anney, R.4    Merico, D.5
  • 24
    • 0025019555 scopus 로고
    • Linkage strategies for genetically complex traits
    • Risch, N., 1990a Linkage strategies for genetically complex traits. I. Multilocus models. Am. J. Hum. Genet. 46: 222-228
    • (1990) I. Multilocus Models. Am. J. Hum. Genet , vol.46 , pp. 222-228
    • Risch, N.1
  • 25
    • 0025020461 scopus 로고
    • Linkage strategies for genetically complex traits. III. The effect of marker polymorphism on analysis of affected relative pairs
    • Risch, N., 1990b Linkage strategies for genetically complex traits. III. The effect of marker polymorphism on analysis of affected relative pairs. Am. J. Hum. Genet. 46: 242-253
    • (1990) Am. J. Hum. Genet , vol.46 , pp. 242-253
    • Risch, N.1
  • 26
    • 0026671473 scopus 로고
    • Corrections to "Linkage strategies for genetically complex traits. III. The effect of marker polymorphism on analysis of affected relative pairs"
    • Risch, N., 1992 Corrections to "Linkage strategies for genetically complex traits. III. The effect of marker polymorphism on analysis of affected relative pairs". Am. J. Hum. Genet. 51: 673-675
    • (1992) Am. J. Hum. Genet , vol.51 , pp. 673-675
    • Risch, N.1
  • 27
    • 0029741063 scopus 로고    scopus 로고
    • The future of genetic studies of complex human diseases
    • Risch, N., and K. Merikangas, 1996 The future of genetic studies of complex human diseases. Science 273: 1516-1517
    • (1996) Science , vol.273 , pp. 1516-1517
    • Risch, N.1    Merikangas, K.2
  • 28
    • 0033479358 scopus 로고    scopus 로고
    • P-values as random variables: Expected P-values
    • Sackrowitz, H. B., and E. Samuel-Cahn, 1999 P-values as random variables: expected P-values. Am. Stat. 53: 326-331
    • (1999) Am. Stat , vol.53 , pp. 326-331
    • Sackrowitz, H.B.1    Samuel-Cahn, E.2
  • 29
    • 84872454490 scopus 로고
    • The frequency distribution of the difference between two Poisson variates belonging to different populations
    • Skellam, J. G. 1946 The frequency distribution of the difference between two Poisson variates belonging to different populations. J. R. Stat. Soc. Ser. A, 109: 296.
    • (1946) J. R. Stat. Soc. Ser. A , vol.109 , pp. 296
    • Skellam, J.G.1
  • 31
    • 68249092574 scopus 로고    scopus 로고
    • Massively parallel sequencing: The next big thing in genetic medicine
    • Tucker, T., M. Marra, and J. M. Friedman, 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
  • 32
    • 0023894935 scopus 로고
    • The affected-pedigree-member method of linkage analysis
    • Weeks, D. E., and K. Lange, 1988 The affected-pedigree-member method of linkage analysis. Am. J. Hum. Genet. 42: 315-326
    • (1988) Am. J. Hum. Genet , vol.42 , pp. 315-326
    • Weeks, D.E.1    Lange, K.2
  • 33
    • 0001771498 scopus 로고
    • Evolution in Mendelian populations
    • Wright, S., 1931 Evolution in Mendelian populations. Genetics 16: 97-159
    • (1931) Genetics , vol.16 , pp. 97-159
    • Wright, S.1
  • 34
    • 0000667524 scopus 로고
    • Size of population and breeding structure in relation to evolution
    • Wright, S., 1938 Size of population and breeding structure in relation to evolution. Science 87: 430-431.
    • (1938) Science , vol.87 , pp. 430-431
    • Wright, S.1


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