메뉴 건너뛰기




Volumn 39, Issue 3, 2015, Pages 166-172

Testing the Effect of Rare Compound-Heterozygous and Recessive Mutations in Case-Parent Sequencing Studies

Author keywords

Compound heterozygous; Rare variant analyses; Transmission disequilibrium test

Indexed keywords

ARTICLE; COMPOUND HETEROZYGOUS MUTATION; CONTROLLED STUDY; DISEASE SIMULATION; FAMILY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC ALGORITHM; GENOTYPE; HETEROZYGOTE; HUMAN; NULL HYPOTHESIS; PARENT; POPULATION; PROGENY; RECESSIVE GENE; RECESSIVE MUTATION; SAMPLE SIZE; BIOLOGICAL MODEL; COMPUTER SIMULATION; DNA SEQUENCE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; MUTATION; PROCEDURES; QUANTITATIVE TRAIT;

EID: 84925101699     PISSN: 07410395     EISSN: 10982272     Source Type: Journal    
DOI: 10.1002/gepi.21885     Document Type: Article
Times cited : (4)

References (20)
  • 2
    • 84879149350 scopus 로고    scopus 로고
    • Testing for modes of inheritance involving compound heterozygotes
    • Bacanu SA. 2013. Testing for modes of inheritance involving compound heterozygotes. Genet Epidemiol 37(5):522-528.
    • (2013) Genet Epidemiol , vol.37 , Issue.5 , pp. 522-528
    • Bacanu, S.A.1
  • 3
    • 84891482263 scopus 로고    scopus 로고
    • Rapid and accurate haplotype phasing and missing data inference for whole genome association studies using localized haplotype clustering
    • Browning BL, Browning SR. 2007. Rapid and accurate haplotype phasing and missing data inference for whole genome association studies using localized haplotype clustering. Genet Epidemiol 31(6):606-606.
    • (2007) Genet Epidemiol , vol.31 , Issue.6 , pp. 606-606
    • Browning, B.L.1    Browning, S.R.2
  • 4
    • 82455199452 scopus 로고    scopus 로고
    • Search for compound heterozygous effects in exome sequence of unrelated subjects
    • Christensen GB, Lambert CG. 2011. Search for compound heterozygous effects in exome sequence of unrelated subjects. BMC Proc 5(Suppl 9):S95.
    • (2011) BMC Proc , vol.5 , pp. S95
    • Christensen, G.B.1    Lambert, C.G.2
  • 5
    • 77952574849 scopus 로고    scopus 로고
    • Uncovering the roles of rare variants in common disease through whole-genome sequencing
    • Cirulli ET, Goldstein DB. 2010. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet 11(6):415-425.
    • (2010) Nat Rev Genet , vol.11 , Issue.6 , pp. 415-425
    • Cirulli, E.T.1    Goldstein, D.B.2
  • 6
    • 84872389630 scopus 로고    scopus 로고
    • Rare variant analysis for family-based design
    • De G, Yip WK, Ionita-Laza I, Laird N. 2013. Rare variant analysis for family-based design. PloS One 8(1):e48495.
    • (2013) PloS One , vol.8 , Issue.1 , pp. e48495
    • De, G.1    Yip, W.K.2    Ionita-Laza, I.3    Laird, N.4
  • 10
    • 84884595534 scopus 로고    scopus 로고
    • Family-based association tests for sequence data, and comparisons with population-based association tests
    • Ionita-Laza I, Lee S, Makarov V, Buxbaum JD, Lin X. 2013. Family-based association tests for sequence data, and comparisons with population-based association tests. Eur J Hum Genet 21(10):1158-1162.
    • (2013) Eur J Hum Genet , vol.21 , Issue.10 , pp. 1158-1162
    • Ionita-Laza, I.1    Lee, S.2    Makarov, V.3    Buxbaum, J.D.4    Lin, X.5
  • 12
    • 0001380336 scopus 로고
    • A multivariate analogue of 1-sided test
    • Kudo A. 1963. A multivariate analogue of 1-sided test. Biometrika 50(3-4):403-418.
    • (1963) Biometrika , vol.50 , Issue.3-4 , pp. 403-418
    • Kudo, A.1
  • 16
    • 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(13):3812-3814.
    • (2003) Nucleic Acids Res , vol.31 , Issue.13 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 17
    • 27544497650 scopus 로고    scopus 로고
    • Calibrating a coalescent simulation of human genome sequence variation
    • Schaffner SF, Foo C, Gabriel S, Reich D, Daly MJ, Altshuler D. 2005. Calibrating a coalescent simulation of human genome sequence variation. Genome Res 15(11):1576-1583.
    • (2005) Genome Res , vol.15 , Issue.11 , pp. 1576-1583
    • Schaffner, S.F.1    Foo, C.2    Gabriel, S.3    Reich, D.4    Daly, M.J.5    Altshuler, D.6
  • 18
    • 84925182614 scopus 로고    scopus 로고
    • Calculating exact P-values for the transmission/disequilibrium test
    • Available at.
    • Schrodi SJ, Jones HB. 2003. Calculating exact P-values for the transmission/disequilibrium test. The SelectedWorks of Steven J Schrodi. Available at http://works.bepress.com/steve_schrodi/14.
    • (2003) The SelectedWorks of Steven J Schrodi
    • Schrodi, S.J.1    Jones, H.B.2
  • 19
    • 79955849364 scopus 로고    scopus 로고
    • Novel compound heterozygous mutations T2C and 1149insT in the KCNQ1 gene cause Jervell and Lange-Nielsen syndrome
    • Wang RR, Li N, Zhang YH, Wang LL, Teng SY, Pu JL. 2011. Novel compound heterozygous mutations T2C and 1149insT in the KCNQ1 gene cause Jervell and Lange-Nielsen syndrome. Int J Mol Med 28(1):41-46.
    • (2011) Int J Mol Med , vol.28 , Issue.1 , pp. 41-46
    • Wang, R.R.1    Li, N.2    Zhang, Y.H.3    Wang, L.L.4    Teng, S.Y.5    Pu, J.L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.