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Volumn 94, Issue 2, 2014, Pages 257-267

A statistical framework to guide sequencing choices in pedigrees

Author keywords

[No Author keywords available]

Indexed keywords

ALGORITHMS; ALLELES; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; GENOTYPE; HUMANS; MALE; MARKOV CHAINS; MODELS, GENETIC; MONTE CARLO METHOD; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS; SOFTWARE; STATISTICS AS TOPIC;

EID: 84893802270     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.01.005     Document Type: Article
Times cited : (19)

References (44)
  • 1
    • 79954986866 scopus 로고    scopus 로고
    • A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)
    • J. Amberger, C. Bocchini, and A. Hamosh A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®) Hum. Mutat. 32 2011 564 567
    • (2011) Hum. Mutat. , vol.32 , pp. 564-567
    • Amberger, J.1    Bocchini, C.2    Hamosh, A.3
  • 2
    • 43049146524 scopus 로고    scopus 로고
    • A HapMap harvest of insights into the genetics of common disease
    • DOI 10.1172/JCI34772
    • T.A. Manolio, L.D. Brooks, and F.S. Collins A HapMap harvest of insights into the genetics of common disease J. Clin. Invest. 118 2008 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
  • 3
    • 84866730927 scopus 로고    scopus 로고
    • The role of large pedigrees in an era of high-throughput sequencing
    • E.M. Wijsman The role of large pedigrees in an era of high-throughput sequencing Hum. Genet. 131 2012 1555 1563
    • (2012) Hum. Genet. , vol.131 , pp. 1555-1563
    • Wijsman, E.M.1
  • 4
    • 79959378465 scopus 로고    scopus 로고
    • Family-based designs for genome-wide association studies
    • J. Ott, Y. Kamatani, and M. Lathrop Family-based designs for genome-wide association studies Nat. Rev. Genet. 12 2011 465 474
    • (2011) Nat. Rev. Genet. , vol.12 , pp. 465-474
    • Ott, J.1    Kamatani, Y.2    Lathrop, M.3
  • 6
    • 78649890408 scopus 로고    scopus 로고
    • TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing
    • J.L. Wang, X. Yang, K. Xia, Z.M. Hu, L. Weng, X. Jin, H. Jiang, P. Zhang, L. Shen, and J.F. Guo et al. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing Brain 133 2010 3510 3518
    • (2010) Brain , vol.133 , pp. 3510-3518
    • Wang, J.L.1    Yang, X.2    Xia, K.3    Hu, Z.M.4    Weng, L.5    Jin, X.6    Jiang, H.7    Zhang, P.8    Shen, L.9    Guo, J.F.10
  • 7
    • 79953707599 scopus 로고    scopus 로고
    • Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype
    • P. Ostergaard, M.A. Simpson, G. Brice, S. Mansour, F.C. Connell, A. Onoufriadis, A.H. Child, J. Hwang, K. Kalidas, and P.S. Mortimer et al. Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype J. Med. Genet. 48 2011 251 255
    • (2011) J. Med. Genet. , vol.48 , pp. 251-255
    • Ostergaard, P.1    Simpson, M.A.2    Brice, G.3    Mansour, S.4    Connell, F.C.5    Onoufriadis, A.6    Child, A.H.7    Hwang, J.8    Kalidas, K.9    Mortimer, P.S.10
  • 11
    • 84881662678 scopus 로고    scopus 로고
    • Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections
    • GenTAC Registry Consortium National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project
    • D.C. Guo, E. Regalado, D.E. Casteel, R.L. Santos-Cortez, L.M. Gong, J.J. Kim, S. Dyack, S.G. Horne, G.J. Chang, G. Jondeau GenTAC Registry Consortium National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections Am. J. Hum. Genet. 93 2013 398 404
    • (2013) Am. J. Hum. Genet. , vol.93 , pp. 398-404
    • Guo, D.C.1    Regalado, E.2    Casteel, D.E.3    Santos-Cortez, R.L.4    Gong, L.M.5    Kim, J.J.6    Dyack, S.7    Horne, S.G.8    Chang, G.J.9    Jondeau, G.10
  • 14
    • 84876276624 scopus 로고    scopus 로고
    • Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy
    • National Heart, Lung, and Blood Institute GO Exome Sequencing Project and the Exome Sequencing Project Family Studies Project Team
    • N. Norton, D.X. Li, E. Rampersaud, A. Morales, E.R. Martin, S. Zuchner, S.R. Guo, M. Gonzalez, D.J. Hedges, P.D. Robertson National Heart, Lung, and Blood Institute GO Exome Sequencing Project and the Exome Sequencing Project Family Studies Project Team Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy Circ. Cardiovasc. Genet. 6 2013 144 153
    • (2013) Circ. Cardiovasc. Genet. , vol.6 , pp. 144-153
    • Norton, N.1    Li, D.X.2    Rampersaud, E.3    Morales, A.4    Martin, E.R.5    Zuchner, S.6    Guo, S.R.7    Gonzalez, M.8    Hedges, D.J.9    Robertson, P.D.10
  • 17
    • 33748317890 scopus 로고    scopus 로고
    • In silico method for inferring genotypes in pedigrees
    • DOI 10.1038/ng1863, PII NG1863
    • J.T. Burdick, W.M. Chen, G.R. Abecasis, and V.G. Cheung In silico method for inferring genotypes in pedigrees Nat. Genet. 38 2006 1002 1004 (Pubitemid 44325924)
    • (2006) Nature Genetics , vol.38 , Issue.9 , pp. 1002-1004
    • Burdick, J.T.1    Chen, W.-M.2    Abecasis, G.R.3    Cheung, V.G.4
  • 18
    • 84875922091 scopus 로고    scopus 로고
    • GIGI: An approach to effective imputation of dense genotypes on large pedigrees
    • C.Y.K. Cheung, E.A. Thompson, and E.M. Wijsman GIGI: an approach to effective imputation of dense genotypes on large pedigrees Am. J. Hum. Genet. 92 2013 504 516
    • (2013) Am. J. Hum. Genet. , vol.92 , pp. 504-516
    • Cheung, C.Y.K.1    Thompson, E.A.2    Wijsman, E.M.3
  • 19
    • 34547628858 scopus 로고    scopus 로고
    • Family-based association tests for genomewide association scans
    • DOI 10.1086/521580
    • W.M. Chen, and G.R. Abecasis Family-based association tests for genomewide association scans Am. J. Hum. Genet. 81 2007 913 926 (Pubitemid 47580246)
    • (2007) American Journal of Human Genetics , vol.81 , Issue.5 , pp. 913-926
    • Chen, W.-M.1    Abecasis, G.R.2
  • 20
    • 84890160000 scopus 로고    scopus 로고
    • Power of family-based association designs to detect rare variants in large pedigrees using imputed genotypes
    • M.M. Saad, and E.M. Wijsman Power of family-based association designs to detect rare variants in large pedigrees using imputed genotypes Genet. Epidemiol. 38 2014 1 9
    • (2014) Genet. Epidemiol. , vol.38 , pp. 1-9
    • Saad, M.M.1    Wijsman, E.M.2
  • 21
    • 84892379214 scopus 로고    scopus 로고
    • Two-phase and family-based designs for next-generation sequencing studies
    • D.C. Thomas, Z. Yang, and F. Yang Two-phase and family-based designs for next-generation sequencing studies Front. Genet. 4 2013 276
    • (2013) Front. Genet. , vol.4 , pp. 276
    • Thomas, D.C.1    Yang, Z.2    Yang, F.3
  • 22
    • 84872425214 scopus 로고    scopus 로고
    • Utilizing graph theory to select the largest set of unrelated individuals for genetic analysis
    • J. Staples, D.A. Nickerson, and J.E. Below Utilizing graph theory to select the largest set of unrelated individuals for genetic analysis Genet. Epidemiol. 37 2013 136 141
    • (2013) Genet. Epidemiol. , vol.37 , pp. 136-141
    • Staples, J.1    Nickerson, D.A.2    Below, J.E.3
  • 25
    • 71249117865 scopus 로고    scopus 로고
    • Case-control association testing in the presence of unknown relationships
    • Y. Choi, E.M. Wijsman, and B.S. Weir Case-control association testing in the presence of unknown relationships Genet. Epidemiol. 33 2009 668 678
    • (2009) Genet. Epidemiol. , vol.33 , pp. 668-678
    • Choi, Y.1    Wijsman, E.M.2    Weir, B.S.3
  • 26
    • 76049108917 scopus 로고    scopus 로고
    • ROADTRIPS: Case-control association testing with partially or completely unknown population and pedigree structure
    • T. Thornton, and M.S. McPeek ROADTRIPS: case-control association testing with partially or completely unknown population and pedigree structure Am. J. Hum. Genet. 86 2010 172 184
    • (2010) Am. J. Hum. Genet. , vol.86 , pp. 172-184
    • Thornton, T.1    McPeek, M.S.2
  • 27
    • 84872380261 scopus 로고    scopus 로고
    • Sequence kernel association test for quantitative traits in family samples
    • H. Chen, J.B. Meigs, and J. Dupuis Sequence kernel association test for quantitative traits in family samples Genet. Epidemiol. 37 2013 196 204
    • (2013) Genet. Epidemiol. , vol.37 , pp. 196-204
    • Chen, H.1    Meigs, J.B.2    Dupuis, J.3
  • 30
    • 0029945706 scopus 로고    scopus 로고
    • Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and marker-sharing statistics
    • E. Sobel, and K. Lange Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics Am. J. Hum. Genet. 58 1996 1323 1337 (Pubitemid 26153844)
    • (1996) American Journal of Human Genetics , vol.58 , Issue.6 , pp. 1323-1337
    • Sobel, E.1    Lange, K.2
  • 31
    • 79960140574 scopus 로고    scopus 로고
    • The structure of genetic linkage data: From LIPED to 1M SNPs
    • E. Thompson The structure of genetic linkage data: from LIPED to 1M SNPs Hum. Hered. 71 2011 86 96
    • (2011) Hum. Hered. , vol.71 , pp. 86-96
    • Thompson, E.1
  • 32
    • 0036338150 scopus 로고    scopus 로고
    • Merlin - Rapid analysis of dense genetic maps using sparse gene flow trees
    • G.R. Abecasis, S.S. Cherny, W.O. Cookson, and L.R. Cardon Merlin - rapid analysis of dense genetic maps using sparse gene flow trees Nat. Genet. 30 2002 97 101
    • (2002) Nat. Genet. , vol.30 , pp. 97-101
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3    Cardon, L.R.4
  • 33
    • 0030833349 scopus 로고    scopus 로고
    • Markov chain Monte Carlo segregation and linkage analysis for oligogenic models
    • S.C. Heath Markov chain Monte Carlo segregation and linkage analysis for oligogenic models Am. J. Hum. Genet. 61 1997 748 760 (Pubitemid 27418415)
    • (1997) American Journal of Human Genetics , vol.61 , Issue.3 , pp. 748-760
    • Heath, S.C.1
  • 34
    • 37149037924 scopus 로고    scopus 로고
    • Multilocus lod scores in large pedigrees: Combination of exact and approximate calculations
    • DOI 10.1159/000109731
    • L. Tong, and E. Thompson Multilocus lod scores in large pedigrees: combination of exact and approximate calculations Hum. Hered. 65 2008 142 153 (Pubitemid 350253954)
    • (2008) Human Heredity , vol.65 , Issue.3 , pp. 142-153
    • Tong, L.1    Thompson, E.2
  • 35
    • 0015183542 scopus 로고
    • A general model for the genetic analysis of pedigree data
    • R.C. Elston, and J. Stewart A general model for the genetic analysis of pedigree data Hum. Hered. 21 1971 523 542
    • (1971) Hum. Hered. , vol.21 , pp. 523-542
    • Elston, R.C.1    Stewart, J.2
  • 36
    • 0035741831 scopus 로고    scopus 로고
    • Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees
    • DOI 10.1159/000053366
    • E. Sobel, H. Sengul, and D.E. Weeks Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees Hum. Hered. 52 2001 121 131 (Pubitemid 34701496)
    • (2001) Human Heredity , vol.52 , Issue.3 , pp. 121-131
    • Sobel, E.1    Sengul, H.2    Weeks, D.E.3
  • 37
    • 33751103455 scopus 로고    scopus 로고
    • Multipoint linkage analysis with many multiallelic or dense diallelic markers: Markov chain-Monte Carlo provides practical approaches for genome scans on general pedigrees
    • DOI 10.1086/508472
    • E.M. Wijsman, J.H. Rothstein, and E.A. Thompson Multipoint linkage analysis with many multiallelic or dense diallelic markers: Markov chain-Monte Carlo provides practical approaches for genome scans on general pedigrees Am. J. Hum. Genet. 79 2006 846 858 (Pubitemid 44763399)
    • (2006) American Journal of Human Genetics , vol.79 , Issue.5 , pp. 846-858
    • Wijsman, E.M.1    Rothstein, J.H.2    Thompson, E.A.3
  • 38
    • 80052584397 scopus 로고    scopus 로고
    • Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms
    • NHLBI GO Exome Sequencing Project
    • E.S. Regalado, D.C. Guo, C. Villamizar, N. Avidan, D. Gilchrist, B. McGillivray, L. Clarke, F. Bernier, R.L. Santos-Cortez, S.M. Leal NHLBI GO Exome Sequencing Project Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms Circ. Res. 109 2011 680 686
    • (2011) Circ. Res. , vol.109 , pp. 680-686
    • Regalado, E.S.1    Guo, D.C.2    Villamizar, C.3    Avidan, N.4    Gilchrist, D.5    McGillivray, B.6    Clarke, L.7    Bernier, F.8    Santos-Cortez, R.L.9    Leal, S.M.10
  • 41
    • 0027432652 scopus 로고
    • Incorrect specification of marker allele frequencies: Effects on linkage analysis
    • N.B. Freimer, L.A. Sandkuijl, and S.M. Blower Incorrect specification of marker allele frequencies: effects on linkage analysis Am. J. Hum. Genet. 52 1993 1102 1110 (Pubitemid 23311351)
    • (1993) American Journal of Human Genetics , vol.52 , Issue.6 , pp. 1102-1110
    • Freimer, N.B.1    Sandkuijl, L.A.2    Blower, S.M.3
  • 42
    • 84866117805 scopus 로고    scopus 로고
    • Exome sequencing to find rare variants causing neurologic diseases
    • D. Doherty, and M.J. Bamshad Exome sequencing to find rare variants causing neurologic diseases Neurology 79 2012 396 397
    • (2012) Neurology , vol.79 , pp. 396-397
    • Doherty, D.1    Bamshad, M.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.