메뉴 건너뛰기




Volumn 6, Issue , 2016, Pages

The impact of genotype calling errors on family-based studies

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MODEL; FEMALE; GENOTYPE; HUMAN; MALE; NUCLEIC ACID DATABASE;

EID: 84975746796     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep28323     Document Type: Article
Times cited : (11)

References (29)
  • 1
    • 79957589237 scopus 로고    scopus 로고
    • Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
    • Oroak B. J, et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 43, 585-589 (2011
    • (2011) Nat Genet , vol.43 , pp. 585-589
    • Oroak, B.J.1
  • 2
    • 84879001958 scopus 로고    scopus 로고
    • De novo mutations in histone-modifying genes in congenital heart disease
    • Zaidi S, et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature 498, 220-223 (2013
    • (2013) Nature , vol.498 , pp. 220-223
    • Zaidi, S.1
  • 5
    • 84875312984 scopus 로고    scopus 로고
    • Low concordance of multiple variant-calling pipelines: Practical implications for exome and genome sequencing
    • Orawe J, et al. Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Med 5, 28 (2013
    • (2013) Genome Med , vol.5 , pp. 28
    • Orawe, J.1
  • 6
    • 1842859051 scopus 로고    scopus 로고
    • Power and sample size calculations for case-control genetic association tests when errors are present: Application to single nucleotide polymorphisms
    • Gordon D, Finch S. J, Nothnagel M, & Ott J. Power and sample size calculations for case-control genetic association tests when errors are present: application to single nucleotide polymorphisms. Human heredity 54, 22-33 (2002
    • (2002) Human Heredity , vol.54 , pp. 22-33
    • Gordon, D.1    Finch, S.J.2    Nothnagel, M.3    Ott, J.4
  • 7
    • 34047274759 scopus 로고    scopus 로고
    • The effects of SNP genotyping errors on the power of the Cochran-Armitage linear trend test for case/control association studies
    • Ahn K, et al. The effects of SNP genotyping errors on the power of the Cochran-Armitage linear trend test for case/control association studies. Annals of human genetics 71, 249-261 (2007
    • (2007) Annals of Human Genetics , vol.71 , pp. 249-261
    • Ahn, K.1
  • 8
    • 79953752624 scopus 로고    scopus 로고
    • Testing for an unusual distribution of rare variants
    • Neale B. M, et al. Testing for an unusual distribution of rare variants. PLoS Genet 7, e1001322 (2011
    • (2011) PLoS Genet , vol.7 , pp. e1001322
    • Neale, B.M.1
  • 9
    • 50949095168 scopus 로고    scopus 로고
    • Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
    • Li B, & Leal S. M. Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet 83, 311-321 (2008
    • (2008) Am J Hum Genet , vol.83 , pp. 311-321
    • Li, B.1    Leal, S.M.2
  • 11
    • 78049425657 scopus 로고    scopus 로고
    • A novel statistic for genome-wide interaction analysis
    • Wu X, et al A novel statistic for genome-wide interaction analysis. PLoS Genet 6, e1001131 (2010
    • (2010) PLoS Genet , vol.6 , pp. e1001131
    • Wu, X.1
  • 12
    • 84872380261 scopus 로고    scopus 로고
    • Sequence kernel association test for quantitative traits in family samples
    • Chen H, Meigs J. B, & Dupuis J. Sequence kernel association test for quantitative traits in family samples. Genetic epidemiology 37, 196-204 (2013
    • (2013) Genetic Epidemiology , vol.37 , pp. 196-204
    • Chen, H.1    Meigs, J.B.2    Dupuis, J.3
  • 13
    • 84862152665 scopus 로고    scopus 로고
    • Family-based association studies for next-generation sequencing
    • Zhu Y, & Xiong M. Family-based association studies for next-generation sequencing. Am J Hum Genet 90, 1028-1045 (2012
    • (2012) Am J Hum Genet , vol.90 , pp. 1028-1045
    • Zhu, Y.1    Xiong, M.2
  • 14
    • 84869123399 scopus 로고    scopus 로고
    • Snp set association analysis for familial data
    • Schifano E. D, et al. SNP Set Association Analysis for Familial Data. Genet Epidemiol 36, 797-810 (2012
    • (2012) Genet Epidemiol , vol.36 , pp. 797-810
    • Schifano, E.D.1
  • 15
    • 84874632410 scopus 로고    scopus 로고
    • Assessing the impact of differential genotyping errors on rare variant tests of association
    • Mayer-Jochimsen M, Fast S, & Tintle N. L. Assessing the impact of differential genotyping errors on rare variant tests of association. PloS one 8, e56626 (2013
    • (2013) PloS One , vol.8 , pp. e56626
    • Mayer-Jochimsen, M.1    Fast, S.2    Tintle, N.L.3
  • 16
    • 82255175718 scopus 로고    scopus 로고
    • Assessing the impact of non-differential genotyping errors on rare variant tests of association
    • Powers S, Gopalakrishnan S, & Tintle N. Assessing the impact of non-differential genotyping errors on rare variant tests of association. Human heredity 72, 153-160 (2011
    • (2011) Human Heredity , vol.72 , pp. 153-160
    • Powers, S.1    Gopalakrishnan, S.2    Tintle, N.3
  • 17
    • 84975721896 scopus 로고    scopus 로고
    • Analyzing the behavior and interpreting the results of gene based tests of rare variants
    • Tintle N. Analyzing the behavior and interpreting the results of gene based tests of rare variants. NHGRI (2013
    • (2013) NHGRI
    • Tintle, N.1
  • 18
    • 84946186974 scopus 로고    scopus 로고
    • A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis
    • Chen R, et al A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis. Bioinformatics 31, 1452-1459 (2015
    • (2015) Bioinformatics , vol.31 , pp. 1452-1459
    • Chen, R.1
  • 19
    • 0027377799 scopus 로고
    • Transmission test for linkage disequilibrium: The insulin gene region and insulindependent diabetes mellitus (IDDM
    • Spielman R. S, McGinnis R. E, & Ewens W. J. Transmission Test for Linkage Disequilibrium: The Insulin Gene Region and Insulindependent Diabetes Mellitus (IDDM). American Journal of Human Genetics 52, 506-516 (1993
    • (1993) American journal of human genetics , vol.52 , pp. 506-516
    • Spielman, R.S.1    McGinnis, R.E.2    Ewens, W.J.3
  • 20
    • 84878589007 scopus 로고    scopus 로고
    • Improving the accuracy and efficiency of identity-by-descent detection in population data
    • Browning B. L, & Browning S. R. Improving the accuracy and efficiency of identity-by-descent detection in population data. Genetics 194, 459-471 (2013
    • (2013) Genetics , vol.194 , pp. 459-471
    • Browning, B.L.1    Browning, S.R.2
  • 21
    • 84868138663 scopus 로고    scopus 로고
    • A likelihood-based framework for variant calling and de novo mutation detection in families
    • Li B, et al A likelihood-based framework for variant calling and de novo mutation detection in families. PLoS genetics 8, e1002944 (2012
    • (2012) PLoS Genetics , vol.8 , pp. e1002944
    • Li, B.1
  • 22
    • 0037371453 scopus 로고    scopus 로고
    • Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium test
    • Mitchell A. A, Cutler D. J, & Chakravarti A. Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium test. American journal of human genetics 72, 598-610 (2003
    • (2003) American Journal of Human Genetics , vol.72 , pp. 598-610
    • Mitchell, A.A.1    Cutler, D.J.2    Chakravarti, A.3
  • 23
    • 84943171338 scopus 로고    scopus 로고
    • A global reference for human genetic variation
    • Genomes Project C, et al A global reference for human genetic variation. Nature 526, 68-74 (2015
    • (2015) Nature , vol.526 , pp. 68-74
    • Genomes Project, C.1
  • 24
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: A tool set for whole-genome association and population-based linkage analyses
    • Purcell S, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. American journal of human genetics 81, 559-575 (2007
    • (2007) American Journal of Human Genetics , vol.81 , pp. 559-575
    • Purcell, S.1
  • 25
    • 80051499915 scopus 로고    scopus 로고
    • Rare-variant association testing for sequencing data with the sequence kernel association test
    • Wu M. C, et al. Rare-variant association testing for sequencing data with the sequence kernel association test. American journal of human genetics 89, 82-93 (2011
    • (2011) American Journal of Human Genetics , vol.89 , pp. 82-93
    • Wu, M.C.1
  • 26
    • 84925407875 scopus 로고    scopus 로고
    • A sequence kernel association test for dichotomous traits in family samples under a generalized linear mixed model
    • Yan Q, et al A Sequence Kernel Association Test for Dichotomous Traits in Family Samples under a Generalized Linear Mixed Model. Human heredity 79, 60-68 (2015
    • (2015) Human Heredity , vol.79 , pp. 60-68
    • Yan, Q.1
  • 27
    • 84966459701 scopus 로고    scopus 로고
    • Rare-variant kernel machine test for longitudinal data from population and family samples
    • Yan Q, et al. Rare-Variant Kernel Machine Test for Longitudinal Data from Population and Family Samples. Human heredity 80, 126-138 (2016
    • (2016) Human Heredity , vol.80 , pp. 126-138
    • Yan, Q.1
  • 28
    • 84957824542 scopus 로고    scopus 로고
    • Associating multivariate quantitative phenotypes with genetic variants in family samples with a novel kernel machine regression method
    • Yan Q, et al. Associating Multivariate Quantitative Phenotypes with Genetic Variants in Family Samples with a Novel Kernel Machine Regression Method. Genetics 201, 1329-1339 (2015
    • (2015) Genetics , vol.201 , pp. 1329-1339
    • Yan, Q.1
  • 29
    • 84890799153 scopus 로고    scopus 로고
    • Parental broader autism subphenotypes in ASD affected families: Relationship to gender, child?s symptoms, SSRI treatment, and platelet serotonin. Autism research official
    • Levin-Decanini T, et al. Parental broader autism subphenotypes in ASD affected families: relationship to gender, child?s symptoms, SSRI treatment, and platelet serotonin. Autism research: official journal of the International Society for Autism Research 6, 621-630 (2013
    • (2013) Journal of the International Society for Autism Research , vol.6 , pp. 621-630
    • Levin-Decanini, T.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.