-
1
-
-
39649117755
-
The impact of next-generation sequencing technology on genetics
-
Mardis ER: The impact of next-generation sequencing technology on genetics. Trends Genet 2008; 24: 133-141.
-
(2008)
Trends Genet
, vol.24
, pp. 133-141
-
-
Mardis, E.R.1
-
3
-
-
50949095168
-
Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
-
Li B, Leal SM: Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet 2008; 83: 311-321.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 311-321
-
-
Li, B.1
Leal, S.M.2
-
4
-
-
61449168010
-
A groupwise association test for rare mutations using a weighted sum statistic
-
Madsen BE, Browning SR: A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet 2009; 5:e1000384.
-
(2009)
PLoS Genet
, vol.5
-
-
Madsen, B.E.1
Browning, S.R.2
-
5
-
-
76649136928
-
An evaluation of statistical approaches to rare variant analysis in genetic association studies
-
Morris AP, Zeggini E: An evaluation of statistical approaches to rare variant analysis in genetic association studies. Genet Epidemiol 2010; 34: 188-193.
-
(2010)
Genet Epidemiol
, vol.34
, pp. 188-193
-
-
Morris, A.P.1
Zeggini, E.2
-
6
-
-
78249243049
-
Extending rarevariant testing strategies: Analysis of noncoding sequence imputed genotypes
-
Zawistowski M, Gopalakrishnan S, Ding J, Li Y, Grimm S, Zöllner S: Extending rarevariant testing strategies: analysis of noncoding sequence imputed genotypes. Am J Hum Genet 2010; 87: 604-617.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 604-617
-
-
Zawistowski, M.1
Gopalakrishnan, S.2
Ding, J.3
Li, Y.4
Grimm, S.5
Zöllner, S.6
-
7
-
-
77949552913
-
Approaches for evaluating rare polymorphisms in genetic association studies
-
Li Q, Zhang H, Yu K: Approaches for evaluating rare polymorphisms in genetic association studies. Hum Hered 2010; 69: 219-228.
-
(2010)
Hum Hered
, vol.69
, pp. 219-228
-
-
Li, Q.1
Zhang, H.2
Yu, K.3
-
8
-
-
78249272314
-
To identify associations with rare variants, just WHaIT: Weighted haplotype and imputation-based tests
-
Li Y, Byrnes AE, Li M: To identify associations with rare variants, just WHaIT: weighted haplotype and imputation-based tests. Am J Hum Genet 2010; 87: 728-735.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 728-735
-
-
Li, Y.1
Byrnes, A.E.2
Li, M.3
-
9
-
-
77953121877
-
Pooled association tests for rare variants in exon-resequencing studies
-
Price AL, Kryukov GV, de Bakker PIW, Purcell SM, Staples J, Wei LJ, Sunyaev SR: Pooled association tests for rare variants in exon-resequencing studies. Am J Hum Genet 2010; 86: 832-838.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 832-838
-
-
Price, A.L.1
Kryukov, G.V.2
De Bakker Piw3
Purcell, S.M.4
Staples, J.5
Wei, L.J.6
Sunyaev, S.R.7
-
10
-
-
79953752624
-
Testing for an unusual distribution of rare variants
-
Neale BM, Rivas MA, Voight BF, Altshuler D, Devlin B, Orho-Melander M, Kathiresan S, Purcell SM, Roeder K, Daly MJ: Testing for an unusual distribution of rare variants. PLoS Genet 2011; 7:e1001322.
-
(2011)
PLoS Genet
, vol.7
-
-
Neale, B.M.1
Rivas, M.A.2
Voight, B.F.3
Altshuler, D.4
Devlin, B.5
Orho-Melander, M.6
Kathiresan, S.7
Purcell, S.M.8
Roeder, K.9
Daly, M.J.10
-
11
-
-
79958100783
-
Adaptive tests for association analysis of rare variants
-
Pan W, Shen X: Adaptive tests for association analysis of rare variants. Genet Epidemiol 2011; 35: 381-388.
-
(2011)
Genet Epidemiol
, vol.35
, pp. 381-388
-
-
Pan, W.1
Shen, X.2
-
12
-
-
79960136351
-
A new expectation-maximization statistical test for case-control association studies considering rare variants obtained by high-throughput sequencing
-
Gordon D, Finch SJ, De La Vega F: A new expectation-maximization statistical test for case-control association studies considering rare variants obtained by high-throughput sequencing. Hum Hered 2011; 71: 113-125.
-
(2011)
Hum Hered
, vol.71
, pp. 113-125
-
-
Gordon, D.1
Finch, S.J.2
De La Vega, F.3
-
13
-
-
80051499915
-
Rare-variant association testing for sequencing data with the sequence kernel association test
-
Wu MC, Lee S, Cai T, Li Y, Boehnke M, Lin X: Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet 2011; 89: 82-93.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 82-93
-
-
Wu, M.C.1
Lee, S.2
Cai, T.3
Li, Y.4
Boehnke, M.5
Lin, X.6
-
14
-
-
77956392692
-
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts
-
Awadalla P, Gauthier J, Myers RA, Casals F, Hamdan FF, Griffing AR, Côté M, Henrion E, Spiegelman D, Tarabeux J, Piton A, Yang Y, Boyko A, Bustamante C, Xiong L, Rapoport JL, Addington AM, DeLisi JLE, Krebs MO, Joober R, Millet B, Fombonne É, Mottron L, Zilversmit M, Keebler J, Daoud H, Marineau C, Roy-Gagnon MH, Dubé MP, Eyre-Walker A, Drapeau P, Stone EA, Lafreniére RG, Rouleau GA: Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. Am J Hum Genet 2010; 87: 316-324.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 316-324
-
-
Awadalla, P.1
Gauthier, J.2
Myers, R.A.3
Casals, F.4
Hamdan, F.F.5
Griffing, A.R.6
Côté, M.7
Henrion, E.8
Spiegelman, D.9
Tarabeux, J.10
Piton, A.11
Yang, Y.12
Boyko, A.13
Bustamante, C.14
Xiong, L.15
Rapoport, J.L.16
Addington, A.M.17
Jle, D.18
Krebs, M.O.19
Joober, R.20
Millet, B.21
Fombonne, É.22
Mottron, L.23
Zilversmit, M.24
Keebler, J.25
Daoud, H.26
Marineau, C.27
Roy-Gagnon, M.H.28
Dubé, M.P.29
Eyre-Walker, A.30
Drapeau, P.31
Stone, E.A.32
Lafreniére, R.G.33
Rouleau, G.A.34
more..
-
15
-
-
79551589417
-
HiTEC: Accurate error correction in high-throughput sequencing data
-
Ilie L, Fazayeli F, Ilie S: HiTEC: accurate error correction in high-throughput sequencing data. Bioinformatics 2011; 27: 295-302.
-
(2011)
Bioinformatics
, vol.27
, pp. 295-302
-
-
Ilie, L.1
Fazayeli, F.2
Ilie, S.3
-
17
-
-
80053194792
-
Base-calling for next-generation sequencing platforms
-
DOI: 10.1093/bib/bbq077
-
Ledergerber C, Dessimoz C: Base-calling for next-generation sequencing platforms. Brief Bioinform 2011; DOI: 10.1093/bib/bbq077.
-
(2011)
Brief Bioinform
-
-
Ledergerber, C.1
Dessimoz, C.2
-
18
-
-
30344454257
-
Characteristics of replicated singlenucleotide polymorphism genotypes from COGA: Affymetrix and center for inherited disease research
-
Tintle NL, Ahn K, Mendell NR, Gordon D, Finch SJ: Characteristics of replicated singlenucleotide polymorphism genotypes from COGA: affymetrix and center for inherited disease research. BMC Genet 2005; 6(suppl 1):S154.
-
(2005)
BMC Genet
, vol.6
, Issue.SUPPL. 1
-
-
Tintle, N.L.1
Ahn, K.2
Mendell, N.R.3
Gordon, D.4
Finch, S.J.5
-
19
-
-
55549097836
-
Mapping short DNA sequencing reads and calling variants using mapping quality scores
-
Li H, Ruan J, Durbin R: Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res 2008; 18: 1851-1858.
-
(2008)
Genome Res
, vol.18
, pp. 1851-1858
-
-
Li, H.1
Ruan, J.2
Durbin, R.3
-
20
-
-
77958102016
-
Statistical analysis strategies for association studies involving rare variants
-
Bansal V, Libiger O, Torkamani A, Schork NJ: Statistical analysis strategies for association studies involving rare variants. Nat Rev Genet 2010; 11: 773-785.
-
(2010)
Nat Rev Genet
, vol.11
, pp. 773-785
-
-
Bansal, V.1
Libiger, O.2
Torkamani, A.3
Schork, N.J.4
-
21
-
-
20444495264
-
Factors affecting statistical power in the detection of genetic association
-
DOI 10.1172/JCI24756
-
Gordon D, Finch SJ: Factors affecting statistical power in the detection of genetic association. J Clin Invest 2005; 115: 1408-1418. (Pubitemid 40814644)
-
(2005)
Journal of Clinical Investigation
, vol.115
, Issue.6
, pp. 1408-1418
-
-
Gordon, D.1
Finch, S.J.2
-
22
-
-
33744481021
-
Effects of differential genotyping error rate on the type I error probability of case-control studies
-
DOI 10.1159/000092553
-
Moskvina V, Craddock N, Holmans P, Owen MJ, O'Donovan MC: Effects of differential genotyping error rate on the type I error probability of case-control studies. Hum Hered 2006; 61: 55-64. (Pubitemid 43804599)
-
(2006)
Human Heredity
, vol.61
, Issue.1
, pp. 55-64
-
-
Moskvina, V.1
Craddock, N.2
Holmans, P.3
Owen, M.J.4
O'Donovan, M.C.5
-
23
-
-
67650964051
-
Increase of rejection rate in case-control studies with differential genotyping error rates
-
Ahn K, Gordon D, Finch SJ: Increase of rejection rate in case-control studies with differential genotyping error rates. Stat Appl Genet Mol Biol 2009; 8: 25.
-
(2009)
Stat Appl Genet Mol Biol
, vol.8
, pp. 25
-
-
Ahn, K.1
Gordon, D.2
Finch, S.J.3
-
24
-
-
0942276432
-
What SNP Genotyping Errors Are Most Costly for Genetic Association Studies?
-
DOI 10.1002/gepi.10301
-
Kang SJ, Gordon D, Finch SJ: What SNP genotyping errors are most costly for genetic association studies? Genet Epidemiol 2004; 26: 132-141. (Pubitemid 38140486)
-
(2004)
Genetic Epidemiology
, vol.26
, Issue.2
, pp. 132-141
-
-
Kang, S.J.1
Gordon, D.2
Finch, S.J.3
-
25
-
-
19944421744
-
Quantifying the percent increase in minimum sample size for SNP genotyping errors in genetic model-based association studies
-
DOI 10.1159/000083540
-
Kang SJ, Finch SJ, Haynes C, Gordon D: Quantifying the percent increase in minimum sample size necessary for SNP genotyping errors in genetic model-based association studies. Hum Hered 2004; 58,139-144. (Pubitemid 40754345)
-
(2004)
Human Heredity
, vol.58
, Issue.3-4
, pp. 139-144
-
-
Sun, J.K.1
Finch, S.J.2
Haynes, C.3
Gordon, D.4
-
26
-
-
34047274759
-
The effects of SNP genotyping errors on the power of the Cochran-Armitage linear trend test for case/control association studies
-
Ahn K, Haynes C, Kim W, St. Fleur R, Gordon D, Finch SJ: The effects of SNP genotyping errors on the power of the Cochran-Armitage linear trend test for case/control association studies. Ann Hum Genet 2007; 71: 249-262.
-
(2007)
Ann Hum Genet
, vol.71
, pp. 249-262
-
-
Ahn, K.1
Haynes, C.2
Kim, W.3
St. Fleur, R.4
Gordon, D.5
Finch, S.J.6
-
27
-
-
1842859051
-
Power and sample size calculations for case-control genetic association tests when errors are present: Application to single nucleotide polymorphisms
-
DOI 10.1159/000066696
-
Gordon D, Finch SJ, Nothnagel M, Ott J: Power and sample size calculations for casecontrol genetic association tests when errors are present: application to single nucleotide polymorphisms. Hum Hered 2002; 54: 22-33. (Pubitemid 35404246)
-
(2002)
Human Heredity
, vol.54
, Issue.1
, pp. 22-33
-
-
Gordon, D.1
Finch, S.J.2
Nothnagel, M.3
Ott, J.4
-
28
-
-
62649089065
-
Genotypeimputation accuracy across worldwide human populations
-
Huang L, Li Y, Singleton AB, Hardy JA, Abecasis G, Rosenberg NA, Scheet P: Genotypeimputation accuracy across worldwide human populations. Am J Hum Genet 2009; 84: 235-250.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 235-250
-
-
Huang, L.1
Li, Y.2
Singleton, A.B.3
Hardy, J.A.4
Abecasis, G.5
Rosenberg, N.A.6
Scheet, P.7
-
29
-
-
71849116348
-
The relationship between imputation error and statistical power in genetic association studies in diverse populations
-
Huang L, Wang C, Rosenberg NA: The relationship between imputation error and statistical power in genetic association studies in diverse populations. Am J Hum Genet 2009; 85: 692-698.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 692-698
-
-
Huang, L.1
Wang, C.2
Rosenberg, N.A.3
-
30
-
-
77953951189
-
APOE is not associated with Alzheimer disease: A cautionary tale of genotype imputation
-
Beecham GW, Martin ER, Gilbert JR, Haines JL, Pericak-Vance MA: APOE is not associated with Alzheimer disease: a cautionary tale of genotype imputation. Ann Hum Genet 2010; 74: 189-194.
-
(2010)
Ann Hum Genet
, vol.74
, pp. 189-194
-
-
Beecham, G.W.1
Martin, E.R.2
Gilbert, J.R.3
Haines, J.L.4
Ma, P.5
-
31
-
-
77955063673
-
Spoiling the whole bunch: Quality control aimed at preserving the integrity of high-throughput genotyping
-
Pluzhnikov A, Below JE, Konkashbaev A, Tikhomirov A, Kistner-Griffin E, Roe CA, Nicolae DL, Cox NJ: Spoiling the whole bunch: quality control aimed at preserving the integrity of high-throughput genotyping. Am J Hum Genet 2010; 87: 123-128.
-
(2010)
Am J Hum Genet
, 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
Nicolae, D.L.7
Cox, N.J.8
-
32
-
-
79958113078
-
SNP mistyping in genotyping arrays-an important cause of spurious association in case-control studies
-
Mitry D, Campbell H, Charteris DG, Fleck BW, Tenesa A, Dunlop MG, Hayward C, Wright AF, Vitart V: SNP mistyping in genotyping arrays-an important cause of spurious association in case-control studies. Genet Epidemiol 2011; 35: 423-426.
-
(2011)
Genet Epidemiol
, vol.35
, pp. 423-426
-
-
Mitry, D.1
Campbell, H.2
Charteris, D.G.3
Fleck, B.W.4
Tenesa, A.5
Dunlop, M.G.6
Hayward, C.7
Wright, A.F.8
Vitart, V.9
-
33
-
-
79959544447
-
Confounded by sequencing depth in association studies of rare alleles
-
Garner C: Confounded by sequencing depth in association studies of rare alleles. Genet Epidemiol 2011; 35: 261-268.
-
(2011)
Genet Epidemiol
, vol.35
, pp. 261-268
-
-
Garner, C.1
-
34
-
-
84861460466
-
R: A language and environment for statistical computing
-
R Development Core Team v2.11.1.
-
R Development Core Team: R: A Language and Environment for Statistical Computing. The R-Project, v2.11.1. www.r-project.org.
-
The R-Project
-
-
-
35
-
-
78751490178
-
A comparison of approaches to account for uncertainty in analysis of imputed genotypes
-
Zheng J, Li Y, Abecasis GR, Scheet P: A comparison of approaches to account for uncertainty in analysis of imputed genotypes. Genet Epidemiol 2011; 35: 102-110.
-
(2011)
Genet Epidemiol
, vol.35
, pp. 102-110
-
-
Zheng, J.1
Li, Y.2
Abecasis, G.R.3
Scheet, P.4
-
36
-
-
33846897439
-
Using duplicate genotyped data in genetic analyses: Testing association and estimating error rates
-
Tintle NL, Gordon D, McMahon FJ, Finch SJ: Using duplicate genotyped data in genetic analyses: testing association and estimating error rates. Stat App Genet Mol Biol 2007; 6: 4.
-
(2007)
Stat App Genet Mol Biol
, vol.6
, pp. 4
-
-
Tintle, N.L.1
Gordon, D.2
McMahon, F.J.3
Finch, S.J.4
-
37
-
-
67650954439
-
Incorporating duplicate genotype data into linear trend tests of genetic association: Methods and cost-effectiveness
-
Borchers B, Brown M, McLellan B, Bekmetjev A, Tintle NL: Incorporating duplicate genotype data into linear trend tests of genetic association: methods and cost-effectiveness. Stat App Genet Mol Biol 2009; 8: 24.
-
(2009)
Stat App Genet Mol Biol
, vol.8
, pp. 24
-
-
Borchers, B.1
Brown, M.2
McLellan, B.3
Bekmetjev, A.4
Tintle, N.L.5
|