-
1
-
-
67249117049
-
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
-
Hindorff, L.A. et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl. Acad. Sci. USA 106, 9362-9367 (2009).
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 9362-9367
-
-
Hindorff, L.A.1
-
2
-
-
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 467, 1061-1073 (2010).
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
-
3
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo, M.A. et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet. 43, 491-498 (2011).
-
(2011)
Nat. Genet.
, vol.43
, pp. 491-498
-
-
Depristo, M.A.1
-
4
-
-
77953808087
-
Genotype imputation for genome-wide association studies
-
Marchini, J. & Howie, B. Genotype imputation for genome-wide association studies. Nat. Rev. Genet. 11, 499-511 (2010).
-
(2010)
Nat. Rev. Genet.
, vol.11
, pp. 499-511
-
-
Marchini, J.1
Howie, B.2
-
5
-
-
77956331627
-
Integrating common and rare genetic variation in diverse human populations
-
Altshuler, D.M. et al. Integrating common and rare genetic variation in diverse human populations. Nature 467, 52-58 (2010).
-
(2010)
Nature
, vol.467
, pp. 52-58
-
-
Altshuler, D.M.1
-
6
-
-
72849144434
-
Sequencing technologies-The next generation
-
Metzker, M.L. Sequencing technologies-the next generation. Nat. Rev. Genet. 11, 31-46 (2010).
-
(2010)
Nat. Rev. Genet.
, vol.11
, pp. 31-46
-
-
Metzker, M.L.1
-
7
-
-
79956314887
-
Genotype and SNP calling from next-generation sequencing data
-
Nielsen, R., Paul, J.S., Albrechtsen, A. & Song, Y.S. Genotype and SNP calling from next-generation sequencing data. Nat. Rev. Genet. 12, 443-451 (2011).
-
(2011)
Nat. Rev. Genet.
, vol.12
, pp. 443-451
-
-
Nielsen, R.1
Paul, J.S.2
Albrechtsen, A.3
Song, Y.S.4
-
8
-
-
78049323331
-
Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants
-
Li, Y. et al. Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nat. Genet. 42, 969-972 (2010).
-
(2010)
Nat. Genet.
, vol.42
, pp. 969-972
-
-
Li, Y.1
-
9
-
-
77950460661
-
Understanding mechanisms underlying human gene expression variation with RNA sequencing
-
Pickrell, J.K. et al. Understanding mechanisms underlying human gene expression variation with RNA sequencing. Nature 464, 768-772 (2010).
-
(2010)
Nature
, vol.464
, pp. 768-772
-
-
Pickrell, J.K.1
-
10
-
-
77950458649
-
Transcriptome genetics using second generation sequencing in a Caucasian population
-
Montgomery, S.B. et al. Transcriptome genetics using second generation sequencing in a Caucasian population. Nature 464, 773-777 (2010).
-
(2010)
Nature
, vol.464
, pp. 773-777
-
-
Montgomery, S.B.1
-
11
-
-
84860595791
-
Cost-effective high-throughput DNA sequencing libraries
-
published online doi:10.1101/gr.128124.111 (20 January
-
Rohland, N. & Reich, D. Cost-effective high-throughput DNA sequencing libraries. Genome Res. published online, doi:10.1101/gr.128124.111 (20 January 2012).
-
(2012)
Genome Res.
-
-
Rohland, N.1
Reich, D.2
-
12
-
-
71149112981
-
Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies
-
Browning, B.L. & Yu, Z. Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies. Am. J. Hum. Genet. 85, 847-861 (2009).
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 847-861
-
-
Browning, B.L.1
Yu, Z.2
-
13
-
-
0034977045
-
Linkage disequilibrium in humans: Models and data
-
DOI 10.1086/321275
-
Pritchard, J.K. & Przeworski, M. Linkage disequilibrium in humans: models and data. Am. J. Hum. Genet. 69, 1-14 (2001). (Pubitemid 32614013)
-
(2001)
American Journal of Human Genetics
, vol.69
, Issue.1
, pp. 1-14
-
-
Pritchard, J.K.1
Przeworski, M.2
-
14
-
-
78650084232
-
The major genetic determinants of HIV-1 control affect HLA class i peptide presentation
-
Pereyra, F. et al. The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. Science 330, 1551-1557 (2010).
-
(2010)
Science
, vol.330
, pp. 1551-1557
-
-
Pereyra, F.1
-
15
-
-
31544444484
-
Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: Suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample
-
DOI 10.1086/500272
-
Suarez, B.K. et al. Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample. Am. J. Hum. Genet. 78, 315-333 (2006). (Pubitemid 43157570)
-
(2006)
American Journal of Human Genetics
, vol.78
, Issue.2
, pp. 315-333
-
-
Suarez, B.K.1
Duan, J.2
Sanders, A.R.3
Hinrichs, A.L.4
Jin, C.H.5
Hou, C.6
Buccola, N.G.7
Hale, N.8
Weilbaecher, A.N.9
Nertney, D.A.10
Olincy, A.11
Green, S.12
Schaffer, A.W.13
Smith, C.J.14
Hannah, D.E.15
Rice, J.P.16
Cox, N.J.17
Martinez, M.18
Mowry, B.J.19
Amin, F.20
Silverman, J.M.21
Black, D.W.22
Byerley, W.F.23
Crowe, R.R.24
Freedman, R.25
Cloninger, C.R.26
Levinson, D.F.27
Gejman, P.V.28
more..
-
16
-
-
58049218976
-
Analysis of 10 independent samples provides evidence for association between schizophrenia and a SNP flanking fibroblast growth factor receptor 2
-
O'Donovan, M. C. et al. Analysis of 10 independent samples provides evidence for association between schizophrenia and a SNP flanking fibroblast growth factor receptor 2. Mol. Psychiatry 14, 30-36 (2009).
-
(2009)
Mol. Psychiatry
, vol.14
, pp. 30-36
-
-
O'Donovan, M.C.1
-
17
-
-
34548340684
-
New models of collaboration in genome-wide association studies: The Genetic Association Information Network
-
The GAIN Collaborative Research Group
-
The GAIN Collaborative Research Group. New models of collaboration in genome-wide association studies: the Genetic Association Information Network. Nat. Genet. 39, 1045-1051 (2007).
-
(2007)
Nat. Genet.
, vol.39
, pp. 1045-1051
-
-
-
18
-
-
68449086236
-
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
-
The International Schizophrenia Consortium
-
The International Schizophrenia Consortium. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 460, 748-752 (2009).
-
(2009)
Nature
, vol.460
, pp. 748-752
-
-
-
19
-
-
78649755576
-
Exome sequencing ANGPTL3 mutations, and familial combined hypolipidemia
-
Musunuru, K. et al. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N. Engl. J. Med. 363, 2220-2227 (2010).
-
(2010)
N. Engl. J. Med.
, vol.363
, pp. 2220-2227
-
-
Musunuru, K.1
-
20
-
-
77956838065
-
Advances in understanding cancer genomes through second-generation sequencing
-
Meyerson, M., Gabriel, S. & Getz, G. Advances in understanding cancer genomes through second-generation sequencing. Nat. Rev. Genet. 11, 685-696 (2010).
-
(2010)
Nat. Rev. Genet.
, vol.11
, pp. 685-696
-
-
Meyerson, M.1
Gabriel, S.2
Getz, G.3
-
21
-
-
0032714352
-
Genomic control for association studies
-
Devlin, B. & Roeder, K. Genomic control for association studies. Biometrics 55, 997-1004 (1999).
-
(1999)
Biometrics
, vol.55
, pp. 997-1004
-
-
Devlin, B.1
Roeder, K.2
-
22
-
-
79959568914
-
Efficient study design for next generation sequencing
-
Sampson, J., Jacobs, K., Yeager, M., Chanock, S. & Chatterjee, N. Efficient study design for next generation sequencing. Genet. Epidemiol. 35, 269-277 (2011).
-
(2011)
Genet. Epidemiol.
, vol.35
, pp. 269-277
-
-
Sampson, J.1
Jacobs, K.2
Yeager, M.3
Chanock, S.4
Chatterjee, N.5
-
23
-
-
77954198372
-
Design of association studies with pooled or un-pooled next-generation sequencing data
-
Kim, S.Y. et al. Design of association studies with pooled or un-pooled next-generation sequencing data. Genet. Epidemiol. 34, 479-491 (2010).
-
(2010)
Genet. Epidemiol.
, vol.34
, pp. 479-491
-
-
Kim, S.Y.1
-
24
-
-
79957950801
-
SNP detection and genotyping from low-coverage sequencing data on multiple diploid samples
-
Le, S.Q. & Durbin, R. SNP detection and genotyping from low-coverage sequencing data on multiple diploid samples. Genome Res. 21, 952-960 (2011).
-
(2011)
Genome Res.
, vol.21
, pp. 952-960
-
-
Le, S.Q.1
Durbin, R.2
-
25
-
-
67650034261
-
Overlapping pools for high-throughput targeted resequencing
-
Prabhu, S. & Pe'er, I. Overlapping pools for high-throughput targeted resequencing. Genome Res. 19, 1254-1261 (2009).
-
(2009)
Genome Res.
, vol.19
, pp. 1254-1261
-
-
Prabhu, S.1
Pe'Er, I.2
-
26
-
-
77950657866
-
Accurate detection and genotyping of SNPs utilizing population sequencing data
-
Bansal, V. et al. Accurate detection and genotyping of SNPs utilizing population sequencing data. Genome Res. 20, 537-545 (2010).
-
(2010)
Genome Res.
, vol.20
, pp. 537-545
-
-
Bansal, V.1
-
27
-
-
78649508578
-
MaCH: Using sequence and genotype data to estimate haplotypes and unobserved genotypes
-
Li, Y., Willer, C.J., Ding, J., Scheet, P. & Abecasis, G.R. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet. Epidemiol. 34, 816-834 (2010).
-
(2010)
Genet. Epidemiol.
, vol.34
, pp. 816-834
-
-
Li, Y.1
Willer, C.J.2
Ding, J.3
Scheet, P.4
Abecasis, G.R.5
-
28
-
-
77956295988
-
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna, A. et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297-1303 (2010).
-
(2010)
Genome Res.
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
-
29
-
-
0000937686
-
Tests for linear trends in proportions and frequencies
-
Armitage, P. Tests for linear trends in proportions and frequencies. Biometrics 11, 375-386 (1955).
-
(1955)
Biometrics
, vol.11
, pp. 375-386
-
-
Armitage, P.1
|