-
1
-
-
84860817223
-
Recent explosive human population growth has resulted in an excess of rare genetic variants
-
Keinan A, Clark AG: Recent explosive human population growth has resulted in an excess of rare genetic variants. Science 2012; 336: 740-743.
-
(2012)
Science
, vol.336
, pp. 740-743
-
-
Keinan, A.1
Clark, A.G.2
-
2
-
-
84860456876
-
FTEC: A coalescent simulator for modeling faster than exponential growth
-
Reppell M, Boehnke M, Zollner S: FTEC: a coalescent simulator for modeling faster than exponential growth. Bioinformatics 2012; 28: 1282-1283.
-
(2012)
Bioinformatics
, vol.28
, pp. 1282-1283
-
-
Reppell, M.1
Boehnke, M.2
Zollner, S.3
-
3
-
-
84863541347
-
An abundance of rare functional variants in 202 drug target genes sequenced in 14, 002 people
-
Nelson MR, Wegmann D, Ehm MG et al: An abundance of rare functional variants in 202 drug target genes sequenced in 14, 002 people. Science 2012; 337: 100-104.
-
(2012)
Science
, vol.337
, pp. 100-104
-
-
Nelson, M.R.1
Wegmann, D.2
Ehm, M.G.3
-
4
-
-
84863556835
-
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
-
Tennessen JA, Bigham AW, O'Connor TD et al: Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 2012; 337: 64-69.
-
(2012)
Science
, vol.337
, pp. 64-69
-
-
Tennessen, J.A.1
Bigham, A.W.2
O'Connor, T.D.3
-
5
-
-
0034969437
-
Are rare variants responsible for susceptibility to complex diseases?
-
Pritchard JK: Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 2001; 69: 124-137.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 124-137
-
-
Pritchard, J.K.1
-
6
-
-
84860333083
-
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis
-
Stahl EA, Wegmann D, Trynka G et al: Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. Nat Genet 2012; 44: 483-489.
-
(2012)
Nat Genet
, vol.44
, pp. 483-489
-
-
Stahl, E.A.1
Wegmann, D.2
Trynka, G.3
-
7
-
-
84873085571
-
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion
-
Huyghe JR, Jackson AU, Fogarty MP et al: Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion. Nat Genet 2013; 45: 197-201.
-
(2013)
Nat Genet
, vol.45
, pp. 197-201
-
-
Huyghe, J.R.1
Jackson, A.U.2
Fogarty, M.P.3
-
8
-
-
84876409686
-
A geometric framework for evaluating rare variant tests of association
-
Liu K, Fast S, Zawistowski M, Tintle NL: A geometric framework for evaluating rare variant tests of association. Genet Epidemiol 2013; 37: 345-357.
-
(2013)
Genet Epidemiol
, vol.37
, pp. 345-357
-
-
Liu, K.1
Fast, S.2
Zawistowski, M.3
Tintle, N.L.4
-
9
-
-
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
-
10
-
-
78249243049
-
Extending rare-variant testing strategies: Analysis of noncoding sequence and imputed genotypes
-
Zawistowski M, Gopalakrishnan S, Ding J et al: Extending rare-variant testing strategies: analysis of noncoding sequence and 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
-
11
-
-
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
-
12
-
-
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
-
13
-
-
80051499915
-
Rare-variant association testing for sequencing data with the sequence kernel association test
-
Wu MC, Lee S, Cai T et al: 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
-
14
-
-
79953752624
-
Testing for an unusual distribution of rare variants
-
Neale BM, Rivas MA, Voight BF et al: 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
-
15
-
-
84859171835
-
The empirical power of rare variant association methods: Results from sanger sequencing in 1, 998 individuals
-
Ladouceur M, Dastani Z, Aulchenko YS et al: The empirical power of rare variant association methods: results from sanger sequencing in 1, 998 individuals. PLoS Genet 2012; 8: e1002496.
-
(2012)
PLoS Genet
, vol.8
-
-
Ladouceur, M.1
Dastani, Z.2
Aulchenko, Y.S.3
-
16
-
-
0014549642
-
Population subdivision with respect to multiple alleles
-
Li CC: Population subdivision with respect to multiple alleles. Ann Hum Genet 1969; 33: 23-29.
-
(1969)
Ann Hum Genet
, vol.33
, pp. 23-29
-
-
Li, C.C.1
-
17
-
-
0032714352
-
Genomic control for association studies
-
Devlin B, Roeder K: Genomic control for association studies. Biometrics 1999; 55: 997-1004.
-
(1999)
Biometrics
, vol.55
, pp. 997-1004
-
-
Devlin, B.1
Roeder, K.2
-
18
-
-
79961091828
-
Demographic history and rare allele sharing among human populations
-
Gravel S, Henn BM, Gutenkunst RN et al: Demographic history and rare allele sharing among human populations. Proc Natl Acad Sci USA 2011; 108: 11983-11988.
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, pp. 11983-11988
-
-
Gravel, S.1
Henn, B.M.2
Gutenkunst, R.N.3
-
19
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
1000 Genomes Project Consortium
-
1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 2010; 467: 1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
-
20
-
-
33746512512
-
Principal components analysis corrects for stratification in genome-wide association studies
-
Price AL, Patterson NJ, Plenge RM et al: Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 2006; 38: 904-909.
-
(2006)
Nat Genet
, vol.38
, pp. 904-909
-
-
Price, A.L.1
Patterson, N.J.2
Plenge, R.M.3
-
21
-
-
84857641821
-
Differential confounding of rare and common variants in spatially structured populations
-
Mathieson I, McVean G: Differential confounding of rare and common variants in spatially structured populations. Nat Genet 2012; 44: 243-246.
-
(2012)
Nat Genet
, vol.44
, pp. 243-246
-
-
Mathieson, I.1
McVean, G.2
-
22
-
-
84861618864
-
Exome sequencing and the genetic basis of complex traits
-
Kiezun A, Garimella K, Do R et al: Exome sequencing and the genetic basis of complex traits. Nat Genet 2012; 44: 623-630.
-
(2012)
Nat Genet
, vol.44
, pp. 623-630
-
-
Kiezun, A.1
Garimella, K.2
Do, R.3
-
23
-
-
84875667844
-
Marbled inflation from population structure in gene-based association studies with rare variants
-
Liu Q, Nicolae DL, Chen LS: Marbled inflation from population structure in gene-based association studies with rare variants. Genet Epidemiol 2013; 37: 286-292.
-
(2013)
Genet Epidemiol
, vol.37
, pp. 286-292
-
-
Liu, Q.1
Nicolae, D.L.2
Chen, L.S.3
-
24
-
-
84876852800
-
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls
-
Liu L, Sabo A, Neale BM et al: Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet 2013; 9: e1003443.
-
(2013)
PLoS Genet
, vol.9
-
-
Liu, L.1
Sabo, A.2
Neale, B.M.3
-
25
-
-
84860916888
-
Assessing the impact of missing genotype data in rare variant association analysis
-
Magi R, Kumar A, Morris AP: Assessing the impact of missing genotype data in rare variant association analysis. BMC Proc 2011; 5: S107.
-
(2011)
BMC Proc
, vol.5
-
-
Magi, R.1
Kumar, A.2
Morris, A.P.3
|