-
1
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
1000 Genomes Project Consortium
-
1000 Genomes Project Consortium. 2010. A map of human genome variation from population-scale sequencing. Nature 467:1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
-
2
-
-
77958088279
-
Rare variant association analysis methods for complex traits
-
Asimit J, Zeggini E. 2010. Rare variant association analysis methods for complex traits. Annu Rev Genet 44:293-308.
-
(2010)
Annu Rev Genet
, vol.44
, pp. 293-308
-
-
Asimit, J.1
Zeggini, E.2
-
4
-
-
80054728031
-
Comparison of statistical tests for disease association with rare variants
-
Basu S, Pan W. 2011. Comparison of statistical tests for disease association with rare variants. Genet Epidemiol 35:606-619.
-
(2011)
Genet Epidemiol
, vol.35
, pp. 606-619
-
-
Basu, S.1
Pan, W.2
-
5
-
-
80051968181
-
Needles in stacks of needs: finding disease causal variants in a wealth of genomic data
-
Cooper GM, Shendure J. 2011. Needles in stacks of needs: finding disease causal variants in a wealth of genomic data. Nat Genet 12:628-640.
-
(2011)
Nat Genet
, vol.12
, pp. 628-640
-
-
Cooper, G.M.1
Shendure, J.2
-
6
-
-
84856565847
-
Weighted selective collapsing strategy for detecting rare and common variants in genetic association study
-
Dai Y, Jiang R, Dong J. 2012. Weighted selective collapsing strategy for detecting rare and common variants in genetic association study. BMC Genet 13:7.
-
(2012)
BMC Genet
, vol.13
, pp. 7
-
-
Dai, Y.1
Jiang, R.2
Dong, J.3
-
7
-
-
82455192533
-
Statistical analysis of rare sequence variants: an overview of collapsing methods
-
Dering C, Pugh E, Ziegler A. 2011. Statistical analysis of rare sequence variants: an overview of collapsing methods. Genet Epidemiol 35:S12-S17.
-
(2011)
Genet Epidemiol
, vol.35
-
-
Dering, C.1
Pugh, E.2
Ziegler, A.3
-
8
-
-
79958077854
-
Detecting rare and common variants for complex traits: sibpair and odds ratio weighted sum statistics (SPWSS, ORWSS)
-
Feng T, Elston RC, Zhu X. 2011. Detecting rare and common variants for complex traits: sibpair and odds ratio weighted sum statistics (SPWSS, ORWSS). Genet Epidemiol 35:398-409.
-
(2011)
Genet Epidemiol
, vol.35
, pp. 398-409
-
-
Feng, T.1
Elston, R.C.2
Zhu, X.3
-
9
-
-
84855925920
-
Rare and common variants: twenty arguments
-
Gibson G. 2012. Rare and common variants: twenty arguments. Nat Rev Genet 13:135-145.
-
(2012)
Nat Rev Genet
, vol.13
, pp. 135-145
-
-
Gibson, G.1
-
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
-
-
79952253512
-
A new testing strategy to identify rare variants with either risk or protective effect on disease
-
Ionita-Laza I, Buxbaum JD, Laird NM, Lange C. 2011. A new testing strategy to identify rare variants with either risk or protective effect on disease. PLoS Genet 7:e1001289.
-
(2011)
PLoS Genet
, vol.7
-
-
Ionita-Laza, I.1
Buxbaum, J.D.2
Laird, N.M.3
Lange, C.4
-
12
-
-
84859171835
-
The empirical power of rare variant association methods: results from sanger sequencing in 1998 individuals
-
Ladouceur M, Dastani Z, Aulchenko YS, Greenwood CMT, Richards JB. 2012. The empirical power of rare variant association methods: results from sanger sequencing in 1998 individuals. PLoS Genet 8:e1002496.
-
(2012)
PLoS Genet
, vol.8
-
-
Ladouceur, M.1
Dastani, Z.2
Aulchenko, Y.S.3
Greenwood, C.M.T.4
Richards, J.B.5
-
13
-
-
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
-
14
-
-
77949552913
-
Approaches for evaluating rare polymorphisms in genetic association studies
-
Li Q, Zhang H, Yu K. 2010. Approaches for evaluating rare polymorphisms in genetic association studies. Hum Hered 69:219-228.
-
(2010)
Hum Hered
, vol.69
, pp. 219-228
-
-
Li, Q.1
Zhang, H.2
Yu, K.3
-
15
-
-
78249272314
-
To identify associations with rare variants, just WHaIT: weighted haplotype and imputation-based tests
-
Li Y, Byrnes AE, Li M. 2011. To identify associations with rare variants, just WHaIT: weighted haplotype and imputation-based tests. Am J Hum Genet 87:728-735.
-
(2011)
Am J Hum Genet
, vol.87
, pp. 728-735
-
-
Li, Y.1
Byrnes, A.E.2
Li, M.3
-
16
-
-
80052731371
-
A general framework for detecting disease associations with rare variants in sequencing studies
-
Lin D, Tang Z. 2011. A general framework for detecting disease associations with rare variants in sequencing studies. Am J Hum Genet 89:354-367.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 354-367
-
-
Lin, D.1
Tang, Z.2
-
17
-
-
82455199497
-
Evaluating methods for the analysis of rare variants in sequence data
-
Luedtke A, Powers S, Petersen A, Sitarik A, Bekmetjev A, Tintle NL. 2011. Evaluating methods for the analysis of rare variants in sequence data. BMC Proc 5:S119.
-
(2011)
BMC Proc
, vol.5
-
-
Luedtke, A.1
Powers, S.2
Petersen, A.3
Sitarik, A.4
Bekmetjev, A.5
Tintle, N.L.6
-
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
-
-
84874632410
-
Assessing the impact of differential genotyping errors on rare variant tests of association
-
Mayer-Jochimsen M, Fast S, Tintle NL. 2012. Assessing the impact of differential genotyping errors on rare variant tests of association. PLoS One 8:e56626.
-
(2012)
PLoS One
, vol.8
-
-
Mayer-Jochimsen, M.1
Fast, S.2
Tintle, N.L.3
-
20
-
-
33846014328
-
A strategy to discover genes that carry multiallelic 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 multiallelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST). Mutat Res Fund Mol Mech Mut 615:28-56.
-
(2007)
Mutat Res Fund Mol Mech Mut
, vol.615
, pp. 28-56
-
-
Morgenthaler, S.1
Thilly, W.G.2
-
21
-
-
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
-
22
-
-
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. 2011. Testing for an unusual distribution of rare variants. PLoS Genet 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
-
23
-
-
84863541347
-
An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people
-
Nelson MR, Wegmann D, Ehm MG, Kessner D, St. Jean P, Verzilli C, Shen J, Tang Z, Bacanu S, Fraser D and others. 2012. An abundance of rare functional variants in 202 drug target genes sequenced in 14, 002 people. Science 337:100-104.
-
(2012)
Science
, vol.337
, pp. 100-104
-
-
Nelson, M.R.1
Wegmann, D.2
Ehm, M.G.3
Kessner, D.4
Jean St, P.5
Verzilli, C.6
Shen, J.7
Tang, Z.8
Bacanu, S.9
Fraser, D.10
-
24
-
-
79958100783
-
Adaptive tests for association analysis of rare variants
-
Pan W, Shen X. 2011. Adaptive tests for association analysis of rare variants. Genet Epidemiol 35:381-388.
-
(2011)
Genet Epidemiol
, vol.35
, pp. 381-388
-
-
Pan, W.1
Shen, X.2
-
25
-
-
82255175718
-
Assessing the impact of non-differential genotyping errors on rare variant tests of association
-
Powers S, Gopalakrishnan S, Tintle NL. 2011. Assessing the impact of non-differential genotyping errors on rare variant tests of association. Hum Hered 72:152-159.
-
(2011)
Hum Hered
, vol.72
, pp. 152-159
-
-
Powers, S.1
Gopalakrishnan, S.2
Tintle, N.L.3
-
26
-
-
77953121877
-
Pooled association tests for rare variants in exon-resequencing studies
-
Price AL, Kryukov GV, de Bakker PIW, Purcell SM, Staples J, Wei L, 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.W.3
Purcell, S.M.4
Staples, J.5
Wei, L.6
Sunyaev, S.R.7
-
27
-
-
80054758152
-
Incorporating model uncertainty in detecting rare variants: the Bayesian risk index
-
Quintana MA, Berstein JL, Thomas DC, Conti DV. 2011. Incorporating model uncertainty in detecting rare variants: the Bayesian risk index. Genet Epidemiol 35:638-649.
-
(2011)
Genet Epidemiol
, vol.35
, pp. 638-649
-
-
Quintana, M.A.1
Berstein, J.L.2
Thomas, D.C.3
Conti, D.V.4
-
28
-
-
80054975975
-
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease
-
Rivas MA, Beaudoin M, Gardet A, Stevens C, Sharma Y, Zhang CK, Boucher G, Ripke S, Ellinghaus D, Burtt N and others. 2011. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet 43:1066-1075.
-
(2011)
Nat Genet
, vol.43
, pp. 1066-1075
-
-
Rivas, M.A.1
Beaudoin, M.2
Gardet, A.3
Stevens, C.4
Sharma, Y.5
Zhang, C.K.6
Boucher, G.7
Ripke, S.8
Ellinghaus, D.9
Burtt, N.10
-
29
-
-
79955941239
-
An optimal weighted aggregated association test for identification of rare variants involved in common diseases
-
Sul J, Han B, He D, Eskin E. 2011. An optimal weighted aggregated association test for identification of rare variants involved in common diseases. Genet 188:181-188.
-
(2011)
Genet
, vol.188
, pp. 181-188
-
-
Sul, J.1
Han, B.2
He, D.3
Eskin, E.4
-
30
-
-
82455219107
-
Identification of genetic association of multiple rare variants using collapsing methods
-
Sun YV, Sung YJ, Tintle NL, Ziegler A. 2011. Identification of genetic association of multiple rare variants using collapsing methods. Genet Epidemiol 35:S101-S106.
-
(2011)
Genet Epidemiol
, vol.35
-
-
Sun, Y.V.1
Sung, Y.J.2
Tintle, N.L.3
Ziegler, A.4
-
31
-
-
84863556835
-
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Sci
-
Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, McGee S, Do R, Liu X, Jun G and others. 2012. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Sci. Science 3337:64-69.
-
(2012)
Science
, vol.3337
, pp. 64-69
-
-
Tennessen, J.A.1
Bigham, A.W.2
O'Connor, T.D.3
Fu, W.4
Kenny, E.E.5
Gravel, S.6
McGee, S.7
Do, R.8
Liu, X.9
Jun, G.10
-
32
-
-
84865790047
-
An integrated encyclopedia of DNA elements in the human genome
-
The ENCODE Project Consortium
-
The ENCODE Project Consortium. 2012. An integrated encyclopedia of DNA elements in the human genome. Nature 489:57-74.
-
(2012)
Nature
, vol.489
, pp. 57-74
-
-
-
33
-
-
82455175499
-
Inflated type I error rates when using aggregation methods to analyze rare variants in the 1000 Genomes Project exon sequencing data in unrelated individuals: summary results from group 7 at genetic analysis workshop 17
-
Tintle NL, Aschard H, Hu I, Nock N, Wang H, Pugh E. 2011. Inflated type I error rates when using aggregation methods to analyze rare variants in the 1000 Genomes Project exon sequencing data in unrelated individuals: summary results from group 7 at genetic analysis workshop 17. Genet Epidemiol 35:S56-S60.
-
(2011)
Genet Epidemiol
, vol.35
-
-
Tintle, N.L.1
Aschard, H.2
Hu, I.3
Nock, N.4
Wang, H.5
Pugh, E.6
-
34
-
-
84856938156
-
Resequencing candidate genes implicates rare variants in asthma susceptibility
-
Torgerson DG, Capurso D, Mathias RA, Graves PE, Hernandez RD, Beaty TH, Bleecker ER, Raby BA, Meyers DA, Barnes KC and others. 2012. Resequencing candidate genes implicates rare variants in asthma susceptibility. Am J Hum Genet 90:273-281.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 273-281
-
-
Torgerson, D.G.1
Capurso, D.2
Mathias, R.A.3
Graves, P.E.4
Hernandez, R.D.5
Beaty, T.H.6
Bleecker, E.R.7
Raby, B.A.8
Meyers, D.A.9
Barnes, K.C.10
-
35
-
-
80051499915
-
Rare-variant association testing for sequence data with the sequence kernel association test
-
Wu MC, Lee S, Cai T, Li Y, Boehnke M, Lin X. 2011. Rare-variant association testing for sequence data with the sequence kernel association test. Am J Hum Genet 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
-
36
-
-
78650363812
-
Bayesian analysis of rare variants in genetic association studies
-
Yi N, Zhi D. 2011. Bayesian analysis of rare variants in genetic association studies. Genet Epidemiol 35:57-69.
-
(2011)
Genet Epidemiol
, vol.35
, pp. 57-69
-
-
Yi, N.1
Zhi, D.2
-
37
-
-
78249243049
-
Extending rare-variant testing strategies: analysis of noncoding sequence and imputed genotypes
-
Zawistowski M, Gopalakrishnan S, Ding J, Li Y, Grimm S, Zollner S. 2010. Extending rare-variant testing strategies: analysis of noncoding sequence and imputed genotypes. Am J Hum Genet 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
Zollner, S.6
-
38
-
-
84876407106
-
-
Differential stratification in rare variant tests observed using an analytic model of joint site frequency spectra. Unpublished manuscript.
-
Zawistowski M, Reppell M, Wegmann D, St. Jean PL, Ehm MG, Nelson MR, Novembre J, Zollner S. 2012. Differential stratification in rare variant tests observed using an analytic model of joint site frequency spectra. Unpublished manuscript.
-
(2012)
-
-
Zawistowski, M.1
Reppell, M.2
Wegmann, D.3
Jean St, P.L.4
Ehm, M.G.5
Nelson, M.R.6
Novembre, J.7
Zollner, S.8
-
39
-
-
80054750776
-
A data-driven method for identifying rare variants with heterogeneous trait effects
-
Zhang Q., Irvin MR, Arnett DK, Province MA, Borecki I. 2011. A data-driven method for identifying rare variants with heterogeneous trait effects. Genet Epidemiol 35:679-685.
-
(2011)
Genet Epidemiol
, vol.35
, pp. 679-685
-
-
Zhang, Q.1
Irvin, M.R.2
Arnett, D.K.3
Province, M.A.4
Borecki, I.5
|