-
1
-
-
34047274759
-
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
-
2
-
-
67650954439
-
Incorporating duplicate genotype data into linear trend tests of genetic association, methods and cost-effectiveness
-
#x0026;
-
Borchers, B., Brown, M., McLellan, B., Bekmetjev, A., & Tintle, N. (2009). Incorporating duplicate genotype data into linear trend tests of genetic association, methods and cost-effectiveness. Statistical Applications in Genetics and Molecular Biology, 8(1), 1–20.
-
(2009)
Statistical Applications in Genetics and Molecular Biology
, vol.8
, Issue.1
, pp. 1-20
-
-
Borchers, B.1
Brown, M.2
McLellan, B.3
Bekmetjev, A.4
Tintle, N.5
-
3
-
-
84855593661
-
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
-
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
-
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
-
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
-
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
-
9
-
-
84957436835
-
Million veteran program (MVP): A mega-biobank to study genetic influences on health and disease
-
Gaziano, M., Concato, J., Brophy, M., Fiore, L., Pyarajan, S., Breeling, J., … O'Leary, T. J. (2016). Million veteran program (MVP): A mega-biobank to study genetic influences on health and disease. Journal of Clinical Epidemiology, 70(2), 214–223.
-
(2016)
Journal of Clinical Epidemiology
, vol.70
, Issue.2
, pp. 214-223
-
-
Gaziano, M.1
Concato, J.2
Brophy, M.3
Fiore, L.4
Pyarajan, S.5
Breeling, J.6
O'Leary, T.J.7
-
10
-
-
20444495264
-
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
-
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
-
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
-
13
-
-
18544362940
-
Increasing power for tests of genetic association in the presence of phenotype and/or genotype error by use of double-sampling
-
#x0026;
-
Gordon, D., Yang, Y., Haynes, C., Finch, S., Mendell, N., Brown, A., & Haroutunian, V. (2004). Increasing power for tests of genetic association in the presence of phenotype and/or genotype error by use of double-sampling. Statistical Applications in Genetics and Molecular Biology, 3(1), 1–32.
-
(2004)
Statistical Applications in Genetics and Molecular Biology
, vol.3
, Issue.1
, pp. 1-32
-
-
Gordon, D.1
Yang, Y.2
Haynes, C.3
Finch, S.4
Mendell, N.5
Brown, A.6
Haroutunian, V.7
-
14
-
-
84901652450
-
The genetics of functional disability in schizophrenia and bipolar illness: Methods and initial results for VA cooperative study #572
-
Harvey, P. D., Siever, L. J., Huang, G. D., Muralidhar, S., Zhao, H., Miller, P., … Concato, J (2014). The genetics of functional disability in schizophrenia and bipolar illness: Methods and initial results for VA cooperative study #572. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 165B(4), 381–389.
-
(2014)
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
, vol.165B
, Issue.4
, pp. 381-389
-
-
Harvey, P.D.1
Siever, L.J.2
Huang, G.D.3
Muralidhar, S.4
Zhao, H.5
Miller, P.6
Concato, J.7
-
15
-
-
67249117049
-
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
-
#x0026;
-
Hindorff, L. A., Sethupathy, P., Junkins, H. A., Ramos, E. M., Mehta, J. P., Collins, F. S., & Manolio, T. A. (2009). Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proceedings of the National Academy of Science of the United States of America, 106(23), 9362–9367.
-
(2009)
Proceedings of the National Academy of Science of the United States of America
, vol.106
, Issue.23
, pp. 9362-9367
-
-
Hindorff, L.A.1
Sethupathy, P.2
Junkins, H.A.3
Ramos, E.M.4
Mehta, J.P.5
Collins, F.S.6
Manolio, T.A.7
-
16
-
-
13144306071
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
24
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., … Visscher, P. M. (2009). Finding the missing heritability of complex diseases. Nature, 461(7265), 747–753.
-
(2009)
Nature
, vol.461
, Issue.7265
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
Goldstein, D.B.4
Hindorff, L.A.5
Hunter, D.J.6
Visscher, P.M.7
-
25
-
-
84874632410
-
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
-
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
-
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
-
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
-
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
-
-
79957589237
-
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
-
O'Roak, B. J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J. J., Girirajan, S., … Eichler, E. E. (2011). Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nature Genetics, 43(6), 585–589.
-
(2011)
Nature Genetics
, vol.43
, Issue.6
, pp. 585-589
-
-
O'Roak, B.J.1
Deriziotis, P.2
Lee, C.3
Vives, L.4
Schwartz, J.J.5
Girirajan, S.6
Eichler, E.E.7
-
31
-
-
77955063673
-
Spoiling the whole bunch: Quality control aimed at preserving the integrity of high-throughput genotyping
-
Pluzhnikov, A., Below, J. E., Konkashbaev, A., Tikhomirov, A., Kistner-Griffin, E., Roe, C. A., … Cox, N. (2010). Spoiling the whole bunch: Quality control aimed at preserving the integrity of high-throughput genotyping. American Journal of Human Genetics, 87, 123–128.
-
(2010)
American Journal of Human Genetics
, vol.87
, pp. 123-128
-
-
Pluzhnikov, A.1
Below, J.E.2
Konkashbaev, A.3
Tikhomirov, A.4
Kistner-Griffin, E.5
Roe, C.A.6
Cox, N.7
-
32
-
-
82255175718
-
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
-
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
-
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
-
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
-
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
-
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
-
38
-
-
84975746796
-
The impact of genotype calling errors on family-based studies
-
#x0026;
-
Yan, Q., Chen, R., Sutcliffe, J. S., Cook, E. H., Week, D. E., Li, B., & Chen, W. (2016). The impact of genotype calling errors on family-based studies. Scientific Report, 6, 28323.
-
(2016)
Scientific Report
, vol.6
, pp. 28323
-
-
Yan, Q.1
Chen, R.2
Sutcliffe, J.S.3
Cook, E.H.4
Week, D.E.5
Li, B.6
Chen, W.7
-
39
-
-
77954140531
-
Common SNPs explain a large proportion of the heritability for human height
-
Yang, J., Benyamin, B., McEvoy, B. P., Gordon, S., Henders, A. K., Nyholt, D. R., … Visscher, P. M. (2010). Common SNPs explain a large proportion of the heritability for human height. Nature Genetics, 42(7), 565–569.
-
(2010)
Nature Genetics
, vol.42
, Issue.7
, pp. 565-569
-
-
Yang, J.1
Benyamin, B.2
McEvoy, B.P.3
Gordon, S.4
Henders, A.K.5
Nyholt, D.R.6
Visscher, P.M.7
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