메뉴 건너뛰기




Volumn 41, Issue 2, 2017, Pages 152-162

Impact of genotyping errors on statistical power of association tests in genomic analyses: A case study

Author keywords

genome wide association test; genotyping; genotyping error; sequencing; statistical power

Indexed keywords

NUCLEOTIDE; GENETIC MARKER;

EID: 85008932269     PISSN: 07410395     EISSN: 10982272     Source Type: Journal    
DOI: 10.1002/gepi.22027     Document Type: Article
Times cited : (10)

References (39)
  • 1
    • 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
    • #x0026;
    • Ahn, K., Haynes, C., Kim, W., Fleur, R. S., Gordon, D., & Finch, S. (2006). 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.
    • (2006) Annals of Human Genetics , vol.71 , pp. 249-261
    • Ahn, K.1    Haynes, C.2    Kim, W.3    Fleur, R.S.4    Gordon, D.5    Finch, S.6
  • 3
    • 84855593661 scopus 로고    scopus 로고
    • An integrative variant analysis suite for whole exome nect-generation sequencing data
    • Challis, D., Yu, J., Evani, U. S., Jackson, A. R., Paithankar, S., Coarfa, C., … Yu, F. (2012). An integrative variant analysis suite for whole exome nect-generation sequencing data. BMC Bioinformatics, 13(1), 8. doi: 10.1186/1471-2105-13-8
    • (2012) BMC Bioinformatics , vol.13 , Issue.1 , pp. 8
    • Challis, D.1    Yu, J.2    Evani, U.S.3    Jackson, A.R.4    Paithankar, S.5    Coarfa, C.6    Yu, F.7
  • 4
    • 77952574849 scopus 로고    scopus 로고
    • Uncovering the roles of rare variants in common disease through whole-genome sequencing
    • #x0026;
    • Cirulli, E. T., & Goldstein, D. B. (2010). Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nature Review Genetics, 11(6), 415–425.
    • (2010) Nature Review Genetics , vol.11 , Issue.6 , pp. 415-425
    • Cirulli, E.T.1    Goldstein, D.B.2
  • 6
    • 84898035774 scopus 로고    scopus 로고
    • Evaluating the impact of genotype errors on rare variant tests of association
    • #x0026;
    • Cook, K., Benitez, A., Fu, C., & Tintle, N. (2014). Evaluating the impact of genotype errors on rare variant tests of association. Frontiers in Genetics, 5, 62.
    • (2014) Frontiers in Genetics , vol.5 , pp. 62
    • Cook, K.1    Benitez, A.2    Fu, C.3    Tintle, N.4
  • 7
    • 79955483667 scopus 로고    scopus 로고
    • A framework for variation discovery and genotyping using next-generation DNA sequencing data
    • DePristo, M. A., Banks, E., Poplin, R., Garimella, K. V., Maguire, J. R., Hartl, C., … Daly, M. J. (2011). A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nature Genetics, 439(5), 491–498.
    • (2011) Nature Genetics , vol.439 , Issue.5 , pp. 491-498
    • DePristo, M.A.1    Banks, E.2    Poplin, R.3    Garimella, K.V.4    Maguire, J.R.5    Hartl, C.6    Daly, M.J.7
  • 8
    • 79959544447 scopus 로고    scopus 로고
    • Confounded by sequencing depth in association studies of rare alleles
    • Garner, C. (2011). Confounded by sequencing depth in association studies of rare alleles. Genetic Epidemiology, 35, 261–268.
    • (2011) Genetic Epidemiology , vol.35 , pp. 261-268
    • Garner, C.1
  • 10
    • 20444495264 scopus 로고    scopus 로고
    • Factors affecting statistical power in the detection of genetic association
    • #x0026;
    • Gordon, D., & Finch, S. (2005). Factors affecting statistical power in the detection of genetic association. Journal of Clinical Investigation, 115(6), 1408–1418.
    • (2005) Journal of Clinical Investigation , vol.115 , Issue.6 , pp. 1408-1418
    • Gordon, D.1    Finch, S.2
  • 11
    • 38049087506 scopus 로고    scopus 로고
    • Linear trend test for case-control genetic association that incorporate random phenotype and genotype classification error
    • #x0026;
    • Gordon, D., Haynes, C., Yang, Y., Kramer, P., & Finch, S. (2007). Linear trend test for case-control genetic association that incorporate random phenotype and genotype classification error. Genetic Epidemiology, 31, 853–870.
    • (2007) Genetic Epidemiology , vol.31 , pp. 853-870
    • Gordon, D.1    Haynes, C.2    Yang, Y.3    Kramer, P.4    Finch, S.5
  • 12
    • 0035235036 scopus 로고    scopus 로고
    • Assessment and management of single nucleotide polymorphism genotype errors in genetic association analysis
    • #x0026;
    • Gordon, D., & Ott, J. (2001). Assessment and management of single nucleotide polymorphism genotype errors in genetic association analysis. Pacific Symposium on Biocomputing, 6, 18–29.
    • (2001) Pacific Symposium on Biocomputing , vol.6 , pp. 18-29
    • Gordon, D.1    Ott, J.2
  • 16
    • 13144306071 scopus 로고    scopus 로고
    • Genome-wide association studies for common diseases and complex traits
    • #x0026;
    • Hirschhorn, J. N., & Daly, M. J. (2005). Genome-wide association studies for common diseases and complex traits. Nature Review Genetics, 6(2), 95–108.
    • (2005) Nature Review Genetics , vol.6 , Issue.2 , pp. 95-108
    • Hirschhorn, J.N.1    Daly, M.J.2
  • 17
    • 19944421744 scopus 로고    scopus 로고
    • Quantifying the percent increase in minimum sample size for SNP genotyping errors in genetic model-based association studies
    • #x0026;
    • Kang, S. J., Finch, S. J., Haynes, C., & Gordon, D. (2004). Quantifying the percent increase in minimum sample size for SNP genotyping errors in genetic model-based association studies. Human Heredity, 58, 139–144.
    • (2004) Human Heredity , vol.58 , pp. 139-144
    • Kang, S.J.1    Finch, S.J.2    Haynes, C.3    Gordon, D.4
  • 18
    • 0942276432 scopus 로고    scopus 로고
    • What SNP genotyping errors are most costly for genetic association studies?
    • #x0026;
    • Kang, S. J., Gordon, D., & Finch, S. J. (2004). What SNP genotyping errors are most costly for genetic association studies? Genetic Epidemiology, 26, 132–141.
    • (2004) Genetic Epidemiology , vol.26 , pp. 132-141
    • Kang, S.J.1    Gordon, D.2    Finch, S.J.3
  • 19
    • 84876482595 scopus 로고    scopus 로고
    • Single-variant and multi-variant trend tests for genetics association with next-generation sequencing that are robust to sequencing error
    • Kim, W., Londono, D., Zhou, L., Xing, J., Nato, A. Q., Musolf, A., … Gordon, D. (2012). Single-variant and multi-variant trend tests for genetics association with next-generation sequencing that are robust to sequencing error. Human Heredity, 74, 172–183.
    • (2012) Human Heredity , vol.74 , pp. 172-183
    • Kim, W.1    Londono, D.2    Zhou, L.3    Xing, J.4    Nato, A.Q.5    Musolf, A.6    Gordon, D.7
  • 20
    • 69949122158 scopus 로고    scopus 로고
    • Varscan: Variant detection in massively parallel sequencing of individual and pooled samples
    • Koboldt, D. C., Chen, K., Wylie, T., Larson, D. E., McLellan, M. D., Mardis, E. R., … Ding, L. (2009). Varscan: Variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics, 25(17), 2283–2285.
    • (2009) Bioinformatics , vol.25 , Issue.17 , pp. 2283-2285
    • Koboldt, D.C.1    Chen, K.2    Wylie, T.3    Larson, D.E.4    McLellan, M.D.5    Mardis, E.R.6    Ding, L.7
  • 21
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with burrows—Wheeler trans-form
    • #x0026;
    • Li, H., & Durbin, R. (2009). Fast and accurate short read alignment with burrows—Wheeler trans-form. Bioinformatics, 25(14), 1754–1760.
    • (2009) Bioinformatics , vol.25 , Issue.14 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 22
    • 68549104404 scopus 로고    scopus 로고
    • The sequence alignment/map format and samtools
    • … 1000 Genome Project Data Processing Subgroup
    • Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., … 1000 Genome Project Data Processing Subgroup (2009). The sequence alignment/map format and samtools. Bioinformatics, 25(16), 2078–2079.
    • (2009) Bioinformatics , vol.25 , Issue.16 , pp. 2078-2079
    • Li, H.1    Handsaker, B.2    Wysoker, A.3    Fennell, T.4    Ruan, J.5    Homer, N.6
  • 23
    • 50949095168 scopus 로고    scopus 로고
    • Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
    • #x0026;
    • Li, B., & Leal, S. M. (2008). Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data. American Journal of Human Genetics, 83(3), 311–321.
    • (2008) American Journal of Human Genetics , vol.83 , Issue.3 , pp. 311-321
    • Li, B.1    Leal, S.M.2
  • 25
    • 84874632410 scopus 로고    scopus 로고
    • Assessing the impact of differential genotyping errors on rare variant tests of association
    • #x0026;
    • Mayer-Jochimsen, M., Fast, S., & Tintle, N. (2013). Assessing the impact of differential genotyping errors on rare variant tests of association. PLoS ONE, 8(3), e56626.
    • (2013) PLoS ONE , vol.8 , Issue.3
    • Mayer-Jochimsen, M.1    Fast, S.2    Tintle, N.3
  • 26
    • 84871595000 scopus 로고    scopus 로고
    • Whole-genome sequencing in autism identifies hot spots for de novo germline mutation
    • Michaelson, J. J., Shi, Y., Gujral, M., Zheng, H., Malhotra, D., Jin, X., … Sebat, J. (2012). Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell, 151(7), 1431–1442.
    • (2012) Cell , vol.151 , Issue.7 , pp. 1431-1442
    • Michaelson, J.J.1    Shi, Y.2    Gujral, M.3    Zheng, H.4    Malhotra, D.5    Jin, X.6    Sebat, J.7
  • 27
    • 33744481021 scopus 로고    scopus 로고
    • Effects of differential genotyping error rate on the type I error probability of case-control studies
    • #x0026;
    • Moskvina, V., Craddock, N., Holmans, P., Owen, M. J., & O'Donovan, M. (2006). Effects of differential genotyping error rate on the type I error probability of case-control studies. Human Heredity, 61, 55–64.
    • (2006) Human Heredity , vol.61 , pp. 55-64
    • Moskvina, V.1    Craddock, N.2    Holmans, P.3    Owen, M.J.4    O'Donovan, M.5
  • 28
    • 0039245568 scopus 로고
    • 2 tests in the analysis of categorical data
    • #x0026;
    • 2 tests in the analysis of categorical data. Biiometrica, 52, 95–109.
    • (1965) Biiometrica , vol.52 , pp. 95-109
    • Mote, V.L.1    Anderson, R.L.2
  • 29
    • 84864911042 scopus 로고    scopus 로고
    • Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia
    • Need, A. C., McEvoy, J. P., Gennarelli, M., Heinzen, E. L., Ge, D., Maia, J. M., … Goldstein, D. B. (2012). Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia American Journal of Human Genetics, 91(2), 303–312.
    • (2012) American Journal of Human Genetics , vol.91 , Issue.2 , pp. 303-312
    • Need, A.C.1    McEvoy, J.P.2    Gennarelli, M.3    Heinzen, E.L.4    Ge, D.5    Maia, J.M.6    Goldstein, D.B.7
  • 30
  • 32
    • 82255175718 scopus 로고    scopus 로고
    • Assessing the impact of non-differential genotyping errors on rare variants tests of association
    • #x0026;
    • Powers, S., Gopalakrishnan, S., & Tintle, N. (2011). Assessing the impact of non-differential genotyping errors on rare variants tests of association. Human Heredity, 72, 152–159.
    • (2011) Human Heredity , vol.72 , pp. 152-159
    • Powers, S.1    Gopalakrishnan, S.2    Tintle, N.3
  • 33
    • 0141993292 scopus 로고    scopus 로고
    • Allowing for genotyping error in analysis of unmatched case-control studies
    • #x0026;
    • Rice, K. M., & Holmans, P. (2003). Allowing for genotyping error in analysis of unmatched case-control studies. Annals of Human Genetics, 67, 165–174.
    • (2003) Annals of Human Genetics , vol.67 , pp. 165-174
    • Rice, K.M.1    Holmans, P.2
  • 34
    • 84950649045 scopus 로고
    • A double sampling scheme for estimating from binomial data with misclassifications
    • Tenenbein, A. (1970). A double sampling scheme for estimating from binomial data with misclassifications. Journal of the American Statistical Association, 65(331), 1350–1361.
    • (1970) Journal of the American Statistical Association , vol.65 , Issue.331 , pp. 1350-1361
    • Tenenbein, A.1
  • 35
    • 0040429983 scopus 로고
    • A double sampling scheme for estimating from binomial data with misclassifications: Sample size determination
    • Tenenbein, A. (1971). A double sampling scheme for estimating from binomial data with misclassifications: Sample size determination. Biometrics, 27, 935–944.
    • (1971) Biometrics , vol.27 , pp. 935-944
    • Tenenbein, A.1
  • 36
    • 0015300666 scopus 로고
    • A double sampling scheme for estimation from misclassified multinomial data with applications
    • Tenenbein, A. (1972). A double sampling scheme for estimation from misclassified multinomial data with applications. Technometrics, 14(1), 187–202.
    • (1972) Technometrics , vol.14 , Issue.1 , pp. 187-202
    • Tenenbein, A.1
  • 37
    • 65449170784 scopus 로고    scopus 로고
    • The cost effectiveness of duplicate genotyping for testing genetic association
    • #x0026;
    • Tintle, N., Gordon, D., Bruggen, D. V., & Finch, S. (2009). The cost effectiveness of duplicate genotyping for testing genetic association. Annals of Human Genetics, 73, 370–378.
    • (2009) Annals of Human Genetics , vol.73 , pp. 370-378
    • Tintle, N.1    Gordon, D.2    Bruggen, D.V.3    Finch, S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.