-
1
-
-
0035451780
-
On the allelic spectrum of human disease
-
Reich DE, Lander ES. On the allelic spectrum of human disease. Trends Genet 2001;17:502-10.
-
(2001)
Trends Genet
, vol.17
, pp. 502-510
-
-
Reich, D.E.1
Lander, E.S.2
-
2
-
-
70350028725
-
Finding common susceptibility variants for complex disease: past, present: future
-
Panoutsopoulou K, Zeggini E. Finding common susceptibility variants for complex disease: past, present: future. Brief FunctGenomics Proteomics 2009;8:345-52.
-
(2009)
Brief FunctGenomics Proteomics
, vol.8
, pp. 345-352
-
-
Panoutsopoulou, K.1
Zeggini, E.2
-
3
-
-
77954407332
-
Genomewide association studies and assessment of the risk of disease
-
Manolio TA. Genomewide association studies and assessment of the risk of disease. NewEngJMed 2010;363:166-76.
-
(2010)
NewEngJMed
, vol.363
, pp. 166-176
-
-
Manolio, T.A.1
-
4
-
-
79954541810
-
Genome-wide association studies and type 2 diabetes
-
Wheeler E, Barroso I. Genome-wide association studies and type 2 diabetes. Brief Funct Genomics 2011;10:52-60.
-
(2011)
Brief Funct Genomics
, vol.10
, pp. 52-60
-
-
Wheeler, E.1
Barroso, I.2
-
5
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature 2009;461:747-53.
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
-
6
-
-
77954140531
-
Common SNPs explain a large proportion of the heritability for human height
-
Yang J, Benyamin B, McEvoy BP, et al. Common SNPs explain a large proportion of the heritability for human height. Nat Genet 2010;42:565-9.
-
(2010)
Nat Genet
, vol.42
, pp. 565-569
-
-
Yang, J.1
Benyamin, B.2
McEvoy, B.P.3
-
7
-
-
84868337361
-
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
-
Morris AP, Voight BF, Teslovich TM, et al. Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet 2012;44:981-90.
-
(2012)
Nat Genet
, vol.44
, pp. 981-990
-
-
Morris, A.P.1
Voight, B.F.2
Teslovich, T.M.3
-
8
-
-
62549085618
-
Human genetic variation and its contribution to complex traits
-
Frazer KA, Murray SS, Schork NJ, et al. Human genetic variation and its contribution to complex traits. Nat Rev Genet 2009;10:241-51.
-
(2009)
Nat Rev Genet
, vol.10
, pp. 241-251
-
-
Frazer, K.A.1
Murray, S.S.2
Schork, N.J.3
-
9
-
-
0029805706
-
The new genomics: global views of biology
-
Lander ES. The new genomics: global views of biology. Science 1996;274:536-9.
-
(1996)
Science
, vol.274
, pp. 536-539
-
-
Lander, E.S.1
-
10
-
-
79551619981
-
Evolutionary evidence of the effect of rare variants on disease etiology
-
Gorlov IP, Gorlova OY, Frazier ML, et al. Evolutionary evidence of the effect of rare variants on disease etiology. Clin Genet 2011;79:199-206.
-
(2011)
Clin Genet
, vol.79
, pp. 199-206
-
-
Gorlov, I.P.1
Gorlova, O.Y.2
Frazier, M.L.3
-
11
-
-
44349132708
-
Common and rare variants in multifactorial susceptibility to common diseases
-
Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 2008; 40:695-701.
-
(2008)
Nat Genet
, vol.40
, pp. 695-701
-
-
Bodmer, W.1
Bonilla, C.2
-
12
-
-
77952574849
-
Uncovering the roles of rare variants in common disease through whole-genome sequencing
-
Cirulli ET, Goldstein DB. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat RevGenet 2010;11:415-25.
-
(2010)
Nat RevGenet
, vol.11
, pp. 415-425
-
-
Cirulli, E.T.1
Goldstein, D.B.2
-
13
-
-
80053549439
-
Clan genomics and the complex architecture of human disease
-
Lupski JR, Belmont JW, Boerwinkle E, et al. Clan genomics and the complex architecture of human disease. Cell 2011; 147:32-43.
-
(2011)
Cell
, vol.147
, pp. 32-43
-
-
Lupski, J.R.1
Belmont, J.W.2
Boerwinkle, E.3
-
14
-
-
84893378179
-
Searching for missing heritability: designing rare variant association studies
-
Zuk O, Schaffner SF, Samocha K, et al. Searching for missing heritability: designing rare variant association studies. ProcNatl Acad SciUSA 2014;111:E455-64.
-
(2014)
ProcNatl Acad SciUSA
, vol.111
, pp. E455-E464
-
-
Zuk, O.1
Schaffner, S.F.2
Samocha, K.3
-
15
-
-
0029185699
-
The distribution of rare alleles
-
Joyce P, Tavare S. The distribution of rare alleles. J Math Biol 1995;33:602-18.
-
(1995)
J Math Biol
, vol.33
, pp. 602-618
-
-
Joyce, P.1
Tavare, S.2
-
16
-
-
34250904283
-
Triallelic single nucleotide polymorphisms and genotyping error in genetic epidemiology studies: MDR1 (ABCB1) G2677/T/A as an example
-
Huebner C, Petermann I, Browning BL, et al. Triallelic single nucleotide polymorphisms and genotyping error in genetic epidemiology studies: MDR1 (ABCB1) G2677/T/A as an example. Cancer Epidemiol Biomarkers Prev 2007;16: 1185-92.
-
(2007)
Cancer Epidemiol Biomarkers Prev
, vol.16
, pp. 1185-1192
-
-
Huebner, C.1
Petermann, I.2
Browning, B.L.3
-
18
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature 2006;444: 444-54.
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
-
19
-
-
79551581823
-
Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study
-
Marenne G, Rodriguez-Santiago B, Closas MG, et al. Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study. HumMutat 2011;32:240-8.
-
(2011)
HumMutat
, vol.32
, pp. 240-248
-
-
Marenne, G.1
Rodriguez-Santiago, B.2
Closas, M.G.3
-
21
-
-
70349566593
-
Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"?
-
Neel JV. Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"? AmJ Hum Genet 1962;14: 353-62.
-
(1962)
AmJ Hum Genet
, vol.14
, pp. 353-362
-
-
Neel, J.V.1
-
22
-
-
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: 124-37.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 124-137
-
-
Pritchard, J.K.1
-
23
-
-
0036799545
-
The allelic architecture of human disease genes: common disease-common variant. or not?
-
Pritchard JK, Cox NJ. The allelic architecture of human disease genes: common disease-common variant. or not? HumMol Genet 2002;11:2417-23.
-
(2002)
HumMol Genet
, vol.11
, pp. 2417-2423
-
-
Pritchard, J.K.1
Cox, N.J.2
-
24
-
-
33750935988
-
Population genetics models of common diseases
-
Di Rienzo A. Population genetics models of common diseases. CurrOpin Genet Dev 2006;16:630-6.
-
(2006)
CurrOpin Genet Dev
, vol.16
, pp. 630-636
-
-
Di Rienzo, A.1
-
25
-
-
84893730773
-
Revisiting the thrifty gene hypothesis via 65 loci associated with susceptibility to type 2 diabetes
-
Ayub Q, Moutsianas L, Chen Y, et al. Revisiting the thrifty gene hypothesis via 65 loci associated with susceptibility to type 2 diabetes. AmJ Hum Genet 2014;94:176-85.
-
(2014)
AmJ Hum Genet
, vol.94
, pp. 176-185
-
-
Ayub, Q.1
Moutsianas, L.2
Chen, Y.3
-
26
-
-
34147116715
-
Most rare missense alleles are deleterious in humans: implications for complex disease and association studies
-
Kryukov GV, Pennacchio LA, Sunyaev SR. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet 2007;80:727-39.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 727-739
-
-
Kryukov, G.V.1
Pennacchio, L.A.2
Sunyaev, S.R.3
-
27
-
-
38749145596
-
Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms
-
Gorlov IP, Gorlova OY, Sunyaev SR, et al. Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. AmJ Hum Genet 2008;82:100-12.
-
(2008)
AmJ Hum Genet
, vol.82
, pp. 100-112
-
-
Gorlov, I.P.1
Gorlova, O.Y.2
Sunyaev, S.R.3
-
28
-
-
84975795680
-
An integrated map of genetic variation from 1, 092 human genomes
-
Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1, 092 human genomes. Nature 2012;491:56-65.
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
Brooks, L.D.3
-
29
-
-
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. ProcNatl Acad SciUSA 2011;108:11983-8.
-
(2011)
ProcNatl Acad SciUSA
, vol.108
, pp. 11983-11988
-
-
Gravel, S.1
Henn, B.M.2
Gutenkunst, R.N.3
-
30
-
-
73449149044
-
Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data
-
Gutenkunst RN, Hernandez RD, Williamson SH, et al. Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data. PLoS Genet 2009;5:e1000695.
-
(2009)
PLoS Genet
, vol.5
-
-
Gutenkunst, R.N.1
Hernandez, R.D.2
Williamson, S.H.3
-
31
-
-
78650037203
-
Deep resequencing reveals excess rare recent variants consistent with explosive population growth
-
Coventry A, Bull-Otterson LM, Liu X, et al. Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nat Commun 2010;1:131.
-
(2010)
Nat Commun
, vol.1
, pp. 131
-
-
Coventry, A.1
Bull-Otterson, L.M.2
Liu, X.3
-
32
-
-
84892579470
-
Neutral genomic regions refine models of recent rapid human population growth
-
Gazave E, Ma L, Chang D, et al. Neutral genomic regions refine models of recent rapid human population growth. ProcNatl Acad SciUSA 2014;111:757-62.
-
(2014)
ProcNatl Acad SciUSA
, vol.111
, pp. 757-762
-
-
Gazave, E.1
Ma, L.2
Chang, D.3
-
33
-
-
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;336:740-3.
-
(2012)
Science
, vol.336
, pp. 740-743
-
-
Keinan, A.1
Clark, A.G.2
-
34
-
-
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;337:100-4.
-
(2012)
Science
, vol.337
, pp. 100-104
-
-
Nelson, M.R.1
Wegmann, D.2
Ehm, M.G.3
-
35
-
-
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; 337:64-9.
-
(2012)
Science
, vol.337
, pp. 64-69
-
-
Tennessen, J.A.1
Bigham, A.W.2
O'Connor, T.D.3
-
36
-
-
84878994629
-
Negligible impact of rare autoimmune-locus coding-region variants on missing heritability
-
Hunt KA, Mistry V, Bockett NA, et al. Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature 2013;498:232-5.
-
(2013)
Nature
, vol.498
, pp. 232-235
-
-
Hunt, K.A.1
Mistry, V.2
Bockett, N.A.3
-
37
-
-
77249134594
-
Rare variants create synthetic genome-wide associations
-
Dickson SP, Wang K, Krantz I, et al. Rare variants create synthetic genome-wide associations. PLoS Biol 2010;8: e1000294.
-
(2010)
PLoS Biol
, vol.8
-
-
Dickson, S.P.1
Wang, K.2
Krantz, I.3
-
38
-
-
84878878253
-
Sequence kernel association tests for the combined effect of rare and common variants
-
Ionita-Laza I, Lee S, Makarov V, et al. Sequence kernel association tests for the combined effect of rare and common variants. AmJHum Genet 2013;92:841-53.
-
(2013)
AmJHum Genet
, vol.92
, pp. 841-853
-
-
Ionita-Laza, I.1
Lee, S.2
Makarov, V.3
-
39
-
-
84893904007
-
A polygenic burden of rare disruptive mutations in schizophrenia
-
Purcell SM, Moran JL, Fromer M, et al. A polygenic burden of rare disruptive mutations in schizophrenia. Nature 2014; 506:185-90.
-
(2014)
Nature
, vol.506
, pp. 185-190
-
-
Purcell, S.M.1
Moran, J.L.2
Fromer, M.3
-
40
-
-
84890260477
-
Whole-exome sequencing of 2, 000 Danish individuals and the role of rare coding variants in type 2 diabetes
-
Lohmueller KE, Sparso T, Li Q, et al. Whole-exome sequencing of 2, 000 Danish individuals and the role of rare coding variants in type 2 diabetes. Am J Hum Genet 2013;93:1072-86.
-
(2013)
Am J Hum Genet
, vol.93
, pp. 1072-1086
-
-
Lohmueller, K.E.1
Sparso, T.2
Li, Q.3
-
41
-
-
84888389414
-
Evaluating empirical bounds on complex disease genetic architecture
-
Agarwala V, Flannick J, Sunyaev S, et al. Evaluating empirical bounds on complex disease genetic architecture. Nat Genet 2013;45:1418-27.
-
(2013)
Nat Genet
, vol.45
, pp. 1418-1427
-
-
Agarwala, V.1
Flannick, J.2
Sunyaev, S.3
-
42
-
-
84885045485
-
Will formal genetics become dispensable?
-
Clerget-Darpoux F, Elston RC. Will formal genetics become dispensable? HumHered 2013;76:47-52.
-
(2013)
HumHered
, vol.76
, pp. 47-52
-
-
Clerget-Darpoux, F.1
Elston, R.C.2
-
43
-
-
84892819277
-
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease
-
Cruchaga C, Karch CM, Jin SC, et al. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature 2014;505:550-4.
-
(2014)
Nature
, vol.505
, pp. 550-554
-
-
Cruchaga, C.1
Karch, C.M.2
Jin, S.C.3
-
44
-
-
33847189247
-
Are genome-wide association studies all that we need to dissect the genetic component of complex human diseases?
-
Bourgain C, Genin E, Cox N, et al. Are genome-wide association studies all that we need to dissect the genetic component of complex human diseases? Euro J Hum Genet 2007;15:260-3.
-
(2007)
Euro J Hum Genet
, vol.15
, pp. 260-263
-
-
Bourgain, C.1
Genin, E.2
Cox, N.3
-
45
-
-
34249095490
-
Are linkage analysis and the collection of family data dead?. Prospects for family studies in the age of genome-wide association
-
Clerget-Darpoux F, Elston RC. Are linkage analysis and the collection of family data dead? Prospects for family studies in the age of genome-wide association. Hum Hered 2007;64: 91-6.
-
(2007)
Hum Hered
, vol.64
, pp. 91-96
-
-
Clerget-Darpoux, F.1
Elston, R.C.2
|