-
1
-
-
33748804424
-
A tutorial on statistical methods for population association studies
-
Balding DJ. 2006. A tutorial on statistical methods for population association studies. Nat Rev Genet 7:781-791.
-
(2006)
Nat Rev Genet
, vol.7
, pp. 781-791
-
-
Balding, D.J.1
-
2
-
-
77958102016
-
Statistical analysis strategies for association studies involving rare variants
-
Bansal V, Libiger O, Torkamani A, Schork NJ. 2010. Statistical analysis strategies for association studies involving rare variants. Nat Rev Genet 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
-
3
-
-
44349132708
-
Common and rare variants in multi-factorial susceptibility to common diseases
-
Bodmer W, Bonilla C. 2008. Common and rare variants in multi-factorial susceptibility to common diseases. Nat Genet 40:695-701.
-
(2008)
Nat Genet
, vol.40
, pp. 695-701
-
-
Bodmer, W.1
Bonilla, C.2
-
4
-
-
79959548938
-
Hierarchical modeling for estimating relative risks of rare genetic variants: Properties of the pseudo-likelihood method
-
In press
-
Capanu M, Begg CB. 2010. Hierarchical modeling for estimating relative risks of rare genetic variants: properties of the pseudo-likelihood method. Biometrics, in press.
-
(2010)
Biometrics
-
-
Capanu, M.1
Begg, C.B.2
-
5
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
Durbin RM, Abecasis GR, Altshuler DL, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA. 2010. A map of human genome variation from population-scale sequencing. Nature 467:1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
Durbin, R.M.1
Abecasis, G.R.2
Altshuler, D.L.3
Auton, A.4
Brooks, L.D.5
Durbin, R.M.6
Gibbs, R.A.7
Hurles, M.E.8
Mcvean, G.A.9
-
6
-
-
0031978181
-
Base-calling of automated sequencer traces using phred. II. Error probabilities
-
Ewing B, Green P. 1998. Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res 8:186-194.
-
(1998)
Genome Res
, vol.8
, pp. 186-194
-
-
Ewing, B.1
Green, P.2
-
7
-
-
33744468525
-
The use of random controls in genetic association studies
-
Garner C. 2006. The use of random controls in genetic association studies. Hum Hered 61:22-26.
-
(2006)
Hum Hered
, vol.61
, pp. 22-26
-
-
Garner, C.1
-
8
-
-
77954196471
-
A statistical method for scanning the genome for regions with rare disease alleles
-
Garner C. 2010. A statistical method for scanning the genome for regions with rare disease alleles. Genet Epidemiol 34:386-395.
-
(2010)
Genet Epidemiol
, vol.34
, pp. 386-395
-
-
Garner, C.1
-
9
-
-
66249088697
-
Generalized linear modeling with regularization for detecting common disease rare haplotype association
-
Guo W, Lin S. 2009. Generalized linear modeling with regularization for detecting common disease rare haplotype association. Genet Epidemiol 33:308-316.
-
(2009)
Genet Epidemiol
, vol.33
, pp. 308-316
-
-
Guo, W.1
Lin, S.2
-
10
-
-
77951028197
-
A data-adaptive sum test for disease association with multiple common or rare variants
-
Han F, Pan W. 2010. A data-adaptive sum test for disease association with multiple common or rare variants. Hum Hered 70:42-54.
-
(2010)
Hum Hered
, vol.70
, pp. 42-54
-
-
Han, F.1
Pan, W.2
-
11
-
-
48249096806
-
Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies
-
Hoggart CJ, Whittaker JC, De Iorio M, Balding DJ. 2008. Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies. PLoS Genet 4:e1000130.
-
(2008)
PLoS Genet
, vol.4
-
-
Hoggart, C.J.1
Whittaker, J.C.2
De Iorio, M.3
Balding, D.J.4
-
12
-
-
77956873627
-
Tackling the widespread and critical impact of batch effects in high-throughput data
-
Leek JT, Scharpf RB, Bravo HC, Simcha D, Langmead B, Johnson WE, Geman D, Baggerly K, Irizarry RA. 2010. Tackling the widespread and critical impact of batch effects in high-throughput data. Nat Rev Genet 11:733-739.
-
(2010)
Nat Rev Genet
, vol.11
, pp. 733-739
-
-
Leek, J.T.1
Scharpf, R.B.2
Bravo, H.C.3
Simcha, D.4
Langmead, B.5
Johnson, W.E.6
Geman, D.7
Baggerly, K.8
Irizarry, R.A.9
-
13
-
-
79959538842
-
Nonparametric Statistical Methods Based on Ranks. New York: McGraw-Hill. Li B, Leal SM. 2008. Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
-
Lehmann EL. 1975. Nonparametric Statistical Methods Based on Ranks. New York: McGraw-Hill. Li B, Leal SM. 2008. Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet 83:311-321.
-
(1975)
Am J Hum Genet
, vol.83
, pp. 311-321
-
-
Lehmann, E.L.1
-
14
-
-
50949095168
-
Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data
-
Li B, Leal SM. 2008. Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet 83:311-321.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 311-321
-
-
Li, B.1
Leal, S.M.2
-
15
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H, Durbin R. 2009. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25:1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
16
-
-
55549097836
-
Mapping short DNA sequencing reads and calling variants using mapping quality scores
-
Li H, Ruan J, Durbin R. 2008. Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res 18:1851-1858.
-
(2008)
Genome Res
, vol.18
, pp. 1851-1858
-
-
Li, H.1
Ruan, J.2
Durbin, R.3
-
17
-
-
37249033229
-
Group additive regression models for genomic data analysis
-
Luan Y, Li H. 2008. Group additive regression models for genomic data analysis. Biostatistics 9:100-113.
-
(2008)
Biostatistics
, vol.9
, pp. 100-113
-
-
Luan, Y.1
Li, H.2
-
18
-
-
61449168010
-
A groupwise association test for rare mutations using a weighted sum statistic
-
Madsen BE, Browning SR. 2009. A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet 5:e1000384.
-
(2009)
PLoS Genet
, vol.5
-
-
Madsen, B.E.1
Browning, S.R.2
-
19
-
-
40749150099
-
Accommodating linkage disequilibrium in genetic-association analyses via ridge regression
-
Malo N, Libiger O, Schork NJ. 2008. Accommodating linkage disequilibrium in genetic-association analyses via ridge regression. Am J Hum Genet 82:375-385.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 375-385
-
-
Malo, N.1
Libiger, O.2
Schork, N.J.3
-
20
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM. 2009. Finding the missing heritability of complex diseases. Nature 461:747-753.
-
(2009)
Nature
, vol.461
, 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
Mccarthy, M.I.7
Ramos, E.M.8
Cardon, L.R.9
Chakravarti, A.10
Cho, J.H.11
Guttmacher, A.E.12
Kong, A.13
Kruglyak, L.14
Mardis, E.15
Rotimi, C.N.16
Slatkin, M.17
Valle, D.18
Whittemore, A.S.19
Boehnke, M.20
Clark, A.G.21
Eichler, E.E.22
Gibson, G.23
Haines, J.L.24
Mackay, T.F.25
Mccarroll, S.A.26
Visscher, P.M.27
more..
-
21
-
-
77956295988
-
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. 2010. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20:1297-1303.
-
(2010)
Genome Res
, vol.20
, pp. 1297-1303
-
-
Mckenna, A.1
Hanna, M.2
Banks, E.3
Sivachenko, A.4
Cibulskis, K.5
Kernytsky, A.6
Garimella, K.7
Altshuler, D.8
Gabriel, S.9
Daly, M.10
Depristo, M.A.11
-
22
-
-
72849144434
-
Sequencing technologies-the next generation
-
Metzker ML. 2010. Sequencing technologies-the next generation. Nat Rev Genet 11:31-46.
-
(2010)
Nat Rev Genet
, vol.11
, pp. 31-46
-
-
Metzker, M.L.1
-
23
-
-
33846014328
-
A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: A cohort allelic sums test (CAST)
-
Morgenthaler S, Thilly WG. 2007. A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST). Mutat Res 615:28-56.
-
(2007)
Mutat Res
, vol.615
, pp. 28-56
-
-
Morgenthaler, S.1
Thilly, W.G.2
-
24
-
-
76649136928
-
An evaluation of statistical approaches to rare variant analysis in genetic association studies
-
Morris AP, Zeggini E. 2010. An evaluation of statistical approaches to rare variant analysis in genetic association studies. Genet Epidemiol 34:188-193.
-
(2010)
Genet Epidemiol
, vol.34
, pp. 188-193
-
-
Morris, A.P.1
Zeggini, E.2
-
25
-
-
73349110071
-
Exome sequencing identifies the cause of a mendelian disorder
-
Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. 2010. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42:30-35.
-
(2010)
Nat Genet
, vol.42
, pp. 30-35
-
-
Ng, S.B.1
Buckingham, K.J.2
Lee, C.3
Bigham, A.W.4
Tabor, H.K.5
Dent, K.M.6
Huff, C.D.7
Shannon, P.T.8
Jabs, E.W.9
Nickerson, D.A.10
Shendure, J.11
Bamshad, M.J.12
-
26
-
-
77953121877
-
Pooled association tests for rare variants in exon-resequencing studies
-
Price AL, Kryukov GV, de Bakker PI, Purcell SM, Staples J, Wei LJ, Sunyaev SR. 2010. Pooled association tests for rare variants in exon-resequencing studies. Am J Hum Genet 86:832-838.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 832-838
-
-
Price, A.L.1
Kryukov, G.V.2
de Bakker, P.I.3
Purcell, S.M.4
Staples, J.5
Wei, L.J.6
Sunyaev, S.R.7
-
27
-
-
77951799158
-
Analysis of genetic inheritance in a family quartet by whole-genome sequencing
-
Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ. 2010. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 328:636-639.
-
(2010)
Science
, vol.328
, pp. 636-639
-
-
Roach, J.C.1
Glusman, G.2
Smit, A.F.3
Huff, C.D.4
Hubley, R.5
Shannon, P.T.6
Rowen, L.7
Pant, K.P.8
Goodman, N.9
Bamshad, M.10
Shendure, J.11
Drmanac, R.12
Jorde, L.B.13
Hood, L.14
Galas, D.J.15
-
28
-
-
0036011273
-
Generalized T2 test for genome association studies
-
Xiong M, Zhao J, Boerwinkle E. 2002. Generalized T2 test for genome association studies. Am J Hum Genet 70:1257-1268.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1257-1268
-
-
Xiong, M.1
Zhao, J.2
Boerwinkle, E.3
-
29
-
-
77957233032
-
Association screening of common and rare genetic variants by penalized regression
-
Zhou H, Sehl ME, Sinsheimer JS, Lange K. 2010. Association screening of common and rare genetic variants by penalized regression. Bioinformatics 26:2375-2382.
-
(2010)
Bioinformatics
, vol.26
, pp. 2375-2382
-
-
Zhou, H.1
Sehl, M.E.2
Sinsheimer, J.S.3
Lange, K.4
-
30
-
-
77951601304
-
Optimizing the power of genome-wide association studies by using publicly available reference samples to expand the control group
-
Zhuang JJ, Zondervan K, Nyberg F, Harbron C, Jawaid A, Cardon LR, Barratt BJ, Morris AP. 2010. Optimizing the power of genome-wide association studies by using publicly available reference samples to expand the control group. Genet Epidemiol 34:319-326.
-
(2010)
Genet Epidemiol
, vol.34
, pp. 319-326
-
-
Zhuang, J.J.1
Zondervan, K.2
Nyberg, F.3
Harbron, C.4
Jawaid, A.5
Cardon, L.R.6
Barratt, B.J.7
Morris, A.P.8
|