-
1
-
-
84864160745
-
A catalog of published genome-wide association studies
-
A catalog of published genome-wide association studies. , http://www.genome.gov/gwastudies
-
-
-
-
2
-
-
55449120805
-
Genetic mapping in human disease
-
New York, NY, 10.1126/science.1156409, 2694957, 18988837
-
Altshuler D, Daly MJ, Lander ES. Genetic mapping in human disease. Science 2008, 322(5903):881-888. New York, NY, 10.1126/science.1156409, 2694957, 18988837.
-
(2008)
Science
, vol.322
, Issue.5903
, pp. 881-888
-
-
Altshuler, D.1
Daly, M.J.2
Lander, E.S.3
-
3
-
-
34250006413
-
Genome-wide association study identifies novel breast cancer susceptibility loci
-
10.1038/nature05887, 2714974, 17529967
-
Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG, Struewing JP, Morrison J, Field H, Luben R, et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007, 447(7148):1087-1093. 10.1038/nature05887, 2714974, 17529967.
-
(2007)
Nature
, vol.447
, Issue.7148
, pp. 1087-1093
-
-
Easton, D.F.1
Pooley, K.A.2
Dunning, A.M.3
Pharoah, P.D.4
Thompson, D.5
Ballinger, D.G.6
Struewing, J.P.7
Morrison, J.8
Field, H.9
Luben, R.10
-
4
-
-
17244379811
-
Complement factor H polymorphism and age-related macular degeneration
-
New York, NY, 10.1126/science.1110189, 15761121
-
Edwards AO, Ritter R, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and age-related macular degeneration. Science 2005, 308(5720):421-424. New York, NY, 10.1126/science.1110189, 15761121.
-
(2005)
Science
, vol.308
, Issue.5720
, pp. 421-424
-
-
Edwards, A.O.1
Ritter, R.2
Abel, K.J.3
Manning, A.4
Panhuysen, C.5
Farrer, L.A.6
-
5
-
-
20244388812
-
Complement factor H variant increases the risk of age-related macular degeneration
-
New York, NY, 10.1126/science.1110359, 15761120
-
Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, Gallins P, Spencer KL, Kwan SY, Noureddine M, Gilbert JR, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science 2005, 308(5720):419-421. New York, NY, 10.1126/science.1110359, 15761120.
-
(2005)
Science
, vol.308
, Issue.5720
, pp. 419-421
-
-
Haines, J.L.1
Hauser, M.A.2
Schmidt, S.3
Scott, W.K.4
Olson, L.M.5
Gallins, P.6
Spencer, K.L.7
Kwan, S.Y.8
Noureddine, M.9
Gilbert, J.R.10
-
6
-
-
20244380171
-
Complement factor H polymorphism in age-related macular degeneration
-
New York, NY, 10.1126/science.1109557, 1512523, 15761122
-
Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, et al. Complement factor H polymorphism in age-related macular degeneration. Science 2005, 308(5720):385-389. New York, NY, 10.1126/science.1109557, 1512523, 15761122.
-
(2005)
Science
, vol.308
, Issue.5720
, pp. 385-389
-
-
Klein, R.J.1
Zeiss, C.2
Chew, E.Y.3
Tsai, J.Y.4
Sackler, R.S.5
Haynes, C.6
Henning, A.K.7
SanGiovanni, J.P.8
Mane, S.M.9
Mayne, S.T.10
-
7
-
-
34249888775
-
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
-
New York, NY, 10.1126/science.1142358, 17463246
-
Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, Chen H, Roix JJ, Kathiresan S, Hirschhorn JN, Daly MJ, et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 2007, 316(5829):1331-1336. New York, NY, 10.1126/science.1142358, 17463246.
-
(2007)
Science
, vol.316
, Issue.5829
, pp. 1331-1336
-
-
Saxena, R.1
Voight, B.F.2
Lyssenko, V.3
Burtt, N.P.4
de Bakker, P.I.5
Chen, H.6
Roix, J.J.7
Kathiresan, S.8
Hirschhorn, J.N.9
Daly, M.J.10
-
8
-
-
34249885875
-
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
-
New York, NY, 10.1126/science.1142382, 17463248
-
Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, Duren WL, Erdos MR, Stringham HM, Chines PS, Jackson AU, et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 2007, 316(5829):1341-1345. New York, NY, 10.1126/science.1142382, 17463248.
-
(2007)
Science
, vol.316
, Issue.5829
, pp. 1341-1345
-
-
Scott, L.J.1
Mohlke, K.L.2
Bonnycastle, L.L.3
Willer, C.J.4
Li, Y.5
Duren, W.L.6
Erdos, M.R.7
Stringham, H.M.8
Chines, P.S.9
Jackson, A.U.10
-
9
-
-
34249895023
-
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
-
New York, NY, 10.1126/science.1142364, 17463249
-
Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, Timpson NJ, Perry JR, Rayner NW, Freathy RM, et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 2007, 316(5829):1336-1341. New York, NY, 10.1126/science.1142364, 17463249.
-
(2007)
Science
, vol.316
, Issue.5829
, pp. 1336-1341
-
-
Zeggini, E.1
Weedon, M.N.2
Lindgren, C.M.3
Frayling, T.M.4
Elliott, K.S.5
Lango, H.6
Timpson, N.J.7
Perry, J.R.8
Rayner, N.W.9
Freathy, R.M.10
-
10
-
-
58149357365
-
Genome-wide association studies in cancer
-
10.1093/hmg/ddn287, 18852198
-
Easton DF, Eeles RA. Genome-wide association studies in cancer. Hum Mol Genet 2008, 17(R2):R109-115. 10.1093/hmg/ddn287, 18852198.
-
(2008)
Hum Mol Genet
, vol.17
, Issue.R2
-
-
Easton, D.F.1
Eeles, R.A.2
-
11
-
-
58149333555
-
Autoimmune diseases: insights from genome-wide association studies
-
10.1093/hmg/ddn246, 2782355, 18852199
-
Lettre G, Rioux JD. Autoimmune diseases: insights from genome-wide association studies. Human molecular genetics 2008, 17(R2):R116-121. 10.1093/hmg/ddn246, 2782355, 18852199.
-
(2008)
Human molecular genetics
, vol.17
, Issue.R2
-
-
Lettre, G.1
Rioux, J.D.2
-
12
-
-
58149328829
-
Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants
-
10.1093/hmg/ddn275, 2570060, 18852197
-
Mohlke KL, Boehnke M, Abecasis GR. Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants. Hum Mol Genet 2008, 17(R2):R102-108. 10.1093/hmg/ddn275, 2570060, 18852197.
-
(2008)
Hum Mol Genet
, vol.17
, Issue.R2
-
-
Mohlke, K.L.1
Boehnke, M.2
Abecasis, G.R.3
-
13
-
-
33750211858
-
A gene-centric approach to genome-wide association studies
-
10.1038/nrg1962, 17047687
-
Jorgenson E, Witte JS. A gene-centric approach to genome-wide association studies. Nat Rev Genet 2006, 7(11):885-891. 10.1038/nrg1962, 17047687.
-
(2006)
Nat Rev Genet
, vol.7
, Issue.11
, pp. 885-891
-
-
Jorgenson, E.1
Witte, J.S.2
-
14
-
-
20844461337
-
LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources
-
10.1093/bioinformatics/bti442, 15827081
-
Karchin R, Diekhans M, Kelly L, Thomas DJ, Pieper U, Eswar N, Haussler D, Sali A. LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources. Bioinformatics 2005, 21(12):2814-2820. 10.1093/bioinformatics/bti442, 15827081.
-
(2005)
Bioinformatics
, vol.21
, Issue.12
, pp. 2814-2820
-
-
Karchin, R.1
Diekhans, M.2
Kelly, L.3
Thomas, D.J.4
Pieper, U.5
Eswar, N.6
Haussler, D.7
Sali, A.8
-
15
-
-
21144453885
-
Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence
-
10.1073/pnas.0503259102, 1157046, 15956201
-
Kashuk CS, Stone EA, Grice EA, Portnoy ME, Green ED, Sidow A, Chakravarti A, McCallion AS. Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence. Proc Natl Acad Sci USA 2005, 102(25):8949-8954. 10.1073/pnas.0503259102, 1157046, 15956201.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, Issue.25
, pp. 8949-8954
-
-
Kashuk, C.S.1
Stone, E.A.2
Grice, E.A.3
Portnoy, M.E.4
Green, E.D.5
Sidow, A.6
Chakravarti, A.7
McCallion, A.S.8
-
16
-
-
0043122919
-
SIFT: Predicting amino acid changes that affect protein function
-
10.1093/nar/gkg509, 168916, 12824425
-
Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 2003, 31(13):3812-3814. 10.1093/nar/gkg509, 168916, 12824425.
-
(2003)
Nucleic Acids Res
, vol.31
, Issue.13
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
17
-
-
33750353461
-
Predicting the effects of amino acid substitutions on protein function
-
10.1146/annurev.genom.7.080505.115630, 16824020
-
Ng PC, Henikoff S. Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet 2006, 7:61-80. 10.1146/annurev.genom.7.080505.115630, 16824020.
-
(2006)
Annu Rev Genomics Hum Genet
, vol.7
, pp. 61-80
-
-
Ng, P.C.1
Henikoff, S.2
-
18
-
-
0035869223
-
Prediction of deleterious human alleles
-
10.1093/hmg/10.6.591, 11230178
-
Sunyaev S, Ramensky V, Koch I, Lathe W, Kondrashov AS, Bork P. Prediction of deleterious human alleles. Hum Mol Genet 2001, 10(6):591-597. 10.1093/hmg/10.6.591, 11230178.
-
(2001)
Hum Mol Genet
, vol.10
, Issue.6
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
Lathe, W.4
Kondrashov, A.S.5
Bork, P.6
-
19
-
-
33645764714
-
SNPs3D: candidate gene and SNP selection for association studies
-
10.1186/1471-2105-7-166, 1435944, 16551372
-
Yue P, Melamud E, Moult J. SNPs3D: candidate gene and SNP selection for association studies. BMC Bioinformatics 2006, 7:166. 10.1186/1471-2105-7-166, 1435944, 16551372.
-
(2006)
BMC Bioinformatics
, vol.7
, pp. 166
-
-
Yue, P.1
Melamud, E.2
Moult, J.3
-
20
-
-
33745169697
-
A common variant associated with prostate cancer in European and African populations
-
10.1038/ng1808, 16682969
-
Amundadottir LT, Sulem P, Gudmundsson J, Helgason A, Baker A, Agnarsson BA, Sigurdsson A, Benediktsdottir KR, Cazier JB, Sainz J, et al. A common variant associated with prostate cancer in European and African populations. Nat Genet 2006, 38(6):652-658. 10.1038/ng1808, 16682969.
-
(2006)
Nat Genet
, vol.38
, Issue.6
, pp. 652-658
-
-
Amundadottir, L.T.1
Sulem, P.2
Gudmundsson, J.3
Helgason, A.4
Baker, A.5
Agnarsson, B.A.6
Sigurdsson, A.7
Benediktsdottir, K.R.8
Cazier, J.B.9
Sainz, J.10
-
21
-
-
33749003979
-
Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men
-
10.1073/pnas.0605832103, 1599913, 16945910
-
Freedman ML, Haiman CA, Patterson N, McDonald GJ, Tandon A, Waliszewska A, Penney K, Steen RG, Ardlie K, John EM, et al. Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men. Proc Natl Acad Sci USA 2006, 103(38):14068-14073. 10.1073/pnas.0605832103, 1599913, 16945910.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, Issue.38
, pp. 14068-14073
-
-
Freedman, M.L.1
Haiman, C.A.2
Patterson, N.3
McDonald, G.J.4
Tandon, A.5
Waliszewska, A.6
Penney, K.7
Steen, R.G.8
Ardlie, K.9
John, E.M.10
-
22
-
-
46849098205
-
Multiple loci with different cancer specificities within the 8q24 gene desert
-
10.1093/jnci/djn190, 2902819, 18577746
-
Ghoussaini M, Song H, Koessler T, Al Olama AA, Kote-Jarai Z, Driver KE, Pooley KA, Ramus SJ, Kjaer SK, Hogdall E, et al. Multiple loci with different cancer specificities within the 8q24 gene desert. J Natl Cancer Inst 2008, 100(13):962-966. 10.1093/jnci/djn190, 2902819, 18577746.
-
(2008)
J Natl Cancer Inst
, vol.100
, Issue.13
, pp. 962-966
-
-
Ghoussaini, M.1
Song, H.2
Koessler, T.3
Al Olama, A.A.4
Kote-Jarai, Z.5
Driver, K.E.6
Pooley, K.A.7
Ramus, S.J.8
Kjaer, S.K.9
Hogdall, E.10
-
23
-
-
34547121725
-
A common genetic risk factor for colorectal and prostate cancer
-
10.1038/ng2098, 2391283, 17618282
-
Haiman CA, Le Marchand L, Yamamato J, Stram DO, Sheng X, Kolonel LN, Wu AH, Reich D, Henderson BE. A common genetic risk factor for colorectal and prostate cancer. Nat Genet 2007, 39(8):954-956. 10.1038/ng2098, 2391283, 17618282.
-
(2007)
Nat Genet
, vol.39
, Issue.8
, pp. 954-956
-
-
Haiman, C.A.1
Le Marchand, L.2
Yamamato, J.3
Stram, D.O.4
Sheng, X.5
Kolonel, L.N.6
Wu, A.H.7
Reich, D.8
Henderson, B.E.9
-
24
-
-
42649136554
-
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3
-
10.1038/ng.111, 18372905
-
Tomlinson IP, Webb E, Carvajal-Carmona L, Broderick P, Howarth K, Pittman AM, Spain S, Lubbe S, Walther A, Sullivan K, et al. A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet 2008, 40(5):623-630. 10.1038/ng.111, 18372905.
-
(2008)
Nat Genet
, vol.40
, Issue.5
, pp. 623-630
-
-
Tomlinson, I.P.1
Webb, E.2
Carvajal-Carmona, L.3
Broderick, P.4
Howarth, K.5
Pittman, A.M.6
Spain, S.7
Lubbe, S.8
Walther, A.9
Sullivan, K.10
-
25
-
-
34547092701
-
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24
-
10.1038/ng2089, 17618283
-
Zanke BW, Greenwood CM, Rangrej J, Kustra R, Tenesa A, Farrington SM, Prendergast J, Olschwang S, Chiang T, Crowdy E, et al. Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat Genet 2007, 39(8):989-994. 10.1038/ng2089, 17618283.
-
(2007)
Nat Genet
, vol.39
, Issue.8
, pp. 989-994
-
-
Zanke, B.W.1
Greenwood, C.M.2
Rangrej, J.3
Kustra, R.4
Tenesa, A.5
Farrington, S.M.6
Prendergast, J.7
Olschwang, S.8
Chiang, T.9
Crowdy, E.10
-
26
-
-
34250010480
-
A common variant on chromosome 9p21 affects the risk of myocardial infarction
-
New York, NY, 10.1126/science.1142842, 17478679
-
Helgadottir A, Thorleifsson G, Manolescu A, Gretarsdottir S, Blondal T, Jonasdottir A, Jonasdottir A, Sigurdsson A, Baker A, Palsson A, et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science 2007, 316(5830):1491-1493. New York, NY, 10.1126/science.1142842, 17478679.
-
(2007)
Science
, vol.316
, Issue.5830
, pp. 1491-1493
-
-
Helgadottir, A.1
Thorleifsson, G.2
Manolescu, A.3
Gretarsdottir, S.4
Blondal, T.5
Jonasdottir, A.6
Jonasdottir, A.7
Sigurdsson, A.8
Baker, A.9
Palsson, A.10
-
27
-
-
34249996115
-
A common allele on chromosome 9 associated with coronary heart disease
-
10.1126/science.1142447, 2711874, 17478681
-
McPherson R, Pertsemlidis A, Kavaslar N, Stewart A, Roberts R, Cox DR, Hinds DA, Pennacchio LA, Tybjaerg-Hansen A, Folsom AR, et al. A common allele on chromosome 9 associated with coronary heart disease. Science 2007, 316(5830):1488-1491. 10.1126/science.1142447, 2711874, 17478681.
-
(2007)
Science
, vol.316
, Issue.5830
, pp. 1488-1491
-
-
McPherson, R.1
Pertsemlidis, A.2
Kavaslar, N.3
Stewart, A.4
Roberts, R.5
Cox, D.R.6
Hinds, D.A.7
Pennacchio, L.A.8
Tybjaerg-Hansen, A.9
Folsom, A.R.10
-
28
-
-
34547623750
-
Genomewide association analysis of coronary artery disease
-
10.1056/NEJMoa072366, 2719290, 17634449
-
Samani NJ, Erdmann J, Hall AS, Hengstenberg C, Mangino M, Mayer B, Dixon RJ, Meitinger T, Braund P, Wichmann HE, et al. Genomewide association analysis of coronary artery disease. N Engl J Med 2007, 357(5):443-453. 10.1056/NEJMoa072366, 2719290, 17634449.
-
(2007)
N Engl J Med
, vol.357
, Issue.5
, pp. 443-453
-
-
Samani, N.J.1
Erdmann, J.2
Hall, A.S.3
Hengstenberg, C.4
Mangino, M.5
Mayer, B.6
Dixon, R.J.7
Meitinger, T.8
Braund, P.9
Wichmann, H.E.10
-
29
-
-
33751520430
-
Natural selection on human microRNA binding sites inferred from SNP data
-
10.1038/ng1910, 17072316
-
Chen K, Rajewsky N. Natural selection on human microRNA binding sites inferred from SNP data. Nat Genet 2006, 38(12):1452-1456. 10.1038/ng1910, 17072316.
-
(2006)
Nat Genet
, vol.38
, Issue.12
, pp. 1452-1456
-
-
Chen, K.1
Rajewsky, N.2
-
30
-
-
19344367734
-
Single nucleotide polymorphism-based validation of exonic splicing enhancers
-
10.1371/journal.pbio.0020268, 514884, 15340491
-
Fairbrother WG, Holste D, Burge CB, Sharp PA. Single nucleotide polymorphism-based validation of exonic splicing enhancers. PLoS Biol 2004, 2(9):E268. 10.1371/journal.pbio.0020268, 514884, 15340491.
-
(2004)
PLoS Biol
, vol.2
, Issue.9
-
-
Fairbrother, W.G.1
Holste, D.2
Burge, C.B.3
Sharp, P.A.4
-
31
-
-
52649095500
-
Genome-wide analysis of natural selection on human cis-elements
-
10.1371/journal.pone.0003137, 2522239, 18781197
-
Sethupathy P, Giang H, Plotkin JB, Hannenhalli S. Genome-wide analysis of natural selection on human cis-elements. PloS one 2008, 3(9):e3137. 10.1371/journal.pone.0003137, 2522239, 18781197.
-
(2008)
PloS one
, vol.3
, Issue.9
-
-
Sethupathy, P.1
Giang, H.2
Plotkin, J.B.3
Hannenhalli, S.4
-
32
-
-
74549137246
-
Evidence of uneven selective pressure on different subsets of the conserved human genome; implications for the significance of intronic and intergenic DNA
-
10.1186/1471-2164-10-614, 2807880, 20015390
-
Davidson S, Starkey A, MacKenzie A. Evidence of uneven selective pressure on different subsets of the conserved human genome; implications for the significance of intronic and intergenic DNA. BMC genomics 2009, 10:614. 10.1186/1471-2164-10-614, 2807880, 20015390.
-
(2009)
BMC genomics
, vol.10
, pp. 614
-
-
Davidson, S.1
Starkey, A.2
MacKenzie, A.3
-
33
-
-
77649267541
-
Human genetic variation recognizes functional elements in noncoding sequence
-
10.1101/gr.094151.109, 2840987, 20032171
-
Lomelin D, Jorgenson E, Risch N. Human genetic variation recognizes functional elements in noncoding sequence. Genome research 2010, 20(3):311-319. 10.1101/gr.094151.109, 2840987, 20032171.
-
(2010)
Genome research
, vol.20
, Issue.3
, pp. 311-319
-
-
Lomelin, D.1
Jorgenson, E.2
Risch, N.3
-
34
-
-
34147151710
-
The strength of selection on ultraconserved elements in the human genome
-
10.1086/513149, 1852725, 17357075
-
Chen CT, Wang JC, Cohen BA. The strength of selection on ultraconserved elements in the human genome. Am J Hum Genet 2007, 80(4):692-704. 10.1086/513149, 1852725, 17357075.
-
(2007)
Am J Hum Genet
, vol.80
, Issue.4
, pp. 692-704
-
-
Chen, C.T.1
Wang, J.C.2
Cohen, B.A.3
-
35
-
-
31744448843
-
Conserved noncoding sequences are selectively constrained and not mutation cold spots
-
10.1038/ng1710, 16380714
-
Drake JA, Bird C, Nemesh J, Thomas DJ, Newton-Cheh C, Reymond A, Excoffier L, Attar H, Antonarakis SE, Dermitzakis ET, et al. Conserved noncoding sequences are selectively constrained and not mutation cold spots. Nat Genet 2006, 38(2):223-227. 10.1038/ng1710, 16380714.
-
(2006)
Nat Genet
, vol.38
, Issue.2
, pp. 223-227
-
-
Drake, J.A.1
Bird, C.2
Nemesh, J.3
Thomas, D.J.4
Newton-Cheh, C.5
Reymond, A.6
Excoffier, L.7
Attar, H.8
Antonarakis, S.E.9
Dermitzakis, E.T.10
-
36
-
-
34548131708
-
Human genome ultraconserved elements are ultraselected
-
New York, NY, 10.1126/science.1142430, 17702936
-
Katzman S, Kern AD, Bejerano G, Fewell G, Fulton L, Wilson RK, Salama SR, Haussler D. Human genome ultraconserved elements are ultraselected. Science 2007, 317(5840):915. New York, NY, 10.1126/science.1142430, 17702936.
-
(2007)
Science
, vol.317
, Issue.5840
, pp. 915
-
-
Katzman, S.1
Kern, A.D.2
Bejerano, G.3
Fewell, G.4
Fulton, L.5
Wilson, R.K.6
Salama, S.R.7
Haussler, D.8
-
37
-
-
77649255315
-
Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes
-
10.1101/gr.102210.109, 2840986, 20067941
-
Goode DL, Cooper GM, Schmutz J, Dickson M, Gonzales E, Tsai M, Karra K, Davydov E, Batzoglou S, Myers RM, et al. Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes. Genome research 2010, 20(3):301-310. 10.1101/gr.102210.109, 2840986, 20067941.
-
(2010)
Genome research
, vol.20
, Issue.3
, pp. 301-310
-
-
Goode, D.L.1
Cooper, G.M.2
Schmutz, J.3
Dickson, M.4
Gonzales, E.5
Tsai, M.6
Karra, K.7
Davydov, E.8
Batzoglou, S.9
Myers, R.M.10
-
38
-
-
0345447463
-
Mutation rate variation in the mammalian genome
-
10.1016/j.gde.2003.10.008, 14638315
-
Ellegren H, Smith NG, Webster MT. Mutation rate variation in the mammalian genome. Curr Opin Genet Dev 2003, 13(6):562-568. 10.1016/j.gde.2003.10.008, 14638315.
-
(2003)
Curr Opin Genet Dev
, vol.13
, Issue.6
, pp. 562-568
-
-
Ellegren, H.1
Smith, N.G.2
Webster, M.T.3
-
39
-
-
1842684068
-
Genome sequence of the Brown Norway rat yields insights into mammalian evolution
-
10.1038/nature02426, 15057822
-
Gibbs RA, Weinstock GM, Metzker ML, Muzny DM, Sodergren EJ, Scherer S, Scott G, Steffen D, Worley KC, Burch PE, et al. Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature 2004, 428(6982):493-521. 10.1038/nature02426, 15057822.
-
(2004)
Nature
, vol.428
, Issue.6982
, pp. 493-521
-
-
Gibbs, R.A.1
Weinstock, G.M.2
Metzker, M.L.3
Muzny, D.M.4
Sodergren, E.J.5
Scherer, S.6
Scott, G.7
Steffen, D.8
Worley, K.C.9
Burch, P.E.10
-
40
-
-
18544404720
-
Covariation in frequencies of substitution, deletion, transposition, and recombination during eutherian evolution
-
10.1101/gr.844103, 430971, 12529302
-
Hardison RC, Roskin KM, Yang S, Diekhans M, Kent WJ, Weber R, Elnitski L, Li J, O'Connor M, Kolbe D, et al. Covariation in frequencies of substitution, deletion, transposition, and recombination during eutherian evolution. Genome Res 2003, 13(1):13-26. 10.1101/gr.844103, 430971, 12529302.
-
(2003)
Genome Res
, vol.13
, Issue.1
, pp. 13-26
-
-
Hardison, R.C.1
Roskin, K.M.2
Yang, S.3
Diekhans, M.4
Kent, W.J.5
Weber, R.6
Elnitski, L.7
Li, J.8
O'Connor, M.9
Kolbe, D.10
-
41
-
-
1542563409
-
Initial sequencing and comparative analysis of the mouse genome
-
10.1038/nature01262, 12466850
-
Waterston RH, Lindblad-Toh K, Birney E, Rogers J, Abril JF, Agarwal P, Agarwala R, Ainscough R, Alexandersson M, An P, et al. Initial sequencing and comparative analysis of the mouse genome. Nature 2002, 420(6915):520-562. 10.1038/nature01262, 12466850.
-
(2002)
Nature
, vol.420
, Issue.6915
, pp. 520-562
-
-
Waterston, R.H.1
Lindblad-Toh, K.2
Birney, E.3
Rogers, J.4
Abril, J.F.5
Agarwal, P.6
Agarwala, R.7
Ainscough, R.8
Alexandersson, M.9
An, P.10
-
42
-
-
1842768391
-
Patterns of insertions and their covariation with substitutions in the rat, mouse, and human genomes
-
10.1101/gr.1984404, 383295, 15059992
-
Yang S, Smit AF, Schwartz S, Chiaromonte F, Roskin KM, Haussler D, Miller W, Hardison RC. Patterns of insertions and their covariation with substitutions in the rat, mouse, and human genomes. Genome Res 2004, 14(4):517-527. 10.1101/gr.1984404, 383295, 15059992.
-
(2004)
Genome Res
, vol.14
, Issue.4
, pp. 517-527
-
-
Yang, S.1
Smit, A.F.2
Schwartz, S.3
Chiaromonte, F.4
Roskin, K.M.5
Haussler, D.6
Miller, W.7
Hardison, R.C.8
-
43
-
-
13844313862
-
Whole-genome patterns of common DNA variation in three human populations
-
New York, NY, 10.1126/science.1105436, 15718463
-
Hinds DA, Stuve LL, Nilsen GB, Halperin E, Eskin E, Ballinger DG, Frazer KA, Cox DR. Whole-genome patterns of common DNA variation in three human populations. Science 2005, 307(5712):1072-1079. New York, NY, 10.1126/science.1105436, 15718463.
-
(2005)
Science
, vol.307
, Issue.5712
, pp. 1072-1079
-
-
Hinds, D.A.1
Stuve, L.L.2
Nilsen, G.B.3
Halperin, E.4
Eskin, E.5
Ballinger, D.G.6
Frazer, K.A.7
Cox, D.R.8
-
44
-
-
34249026300
-
High-resolution profiling of histone methylations in the human genome
-
10.1016/j.cell.2007.05.009, 17512414
-
Barski A, Cuddapah S, Cui K, Roh TY, Schones DE, Wang Z, Wei G, Chepelev I, Zhao K. High-resolution profiling of histone methylations in the human genome. Cell 2007, 129(4):823-837. 10.1016/j.cell.2007.05.009, 17512414.
-
(2007)
Cell
, vol.129
, Issue.4
, pp. 823-837
-
-
Barski, A.1
Cuddapah, S.2
Cui, K.3
Roh, T.Y.4
Schones, D.E.5
Wang, Z.6
Wei, G.7
Chepelev, I.8
Zhao, K.9
-
45
-
-
38649099445
-
High-resolution mapping and characterization of open chromatin across the genome
-
10.1016/j.cell.2007.12.014, 2669738, 18243105
-
Boyle AP, Davis S, Shulha HP, Meltzer P, Margulies EH, Weng Z, Furey TS, Crawford GE. High-resolution mapping and characterization of open chromatin across the genome. Cell 2008, 132(2):311-322. 10.1016/j.cell.2007.12.014, 2669738, 18243105.
-
(2008)
Cell
, vol.132
, Issue.2
, pp. 311-322
-
-
Boyle, A.P.1
Davis, S.2
Shulha, H.P.3
Meltzer, P.4
Margulies, E.H.5
Weng, Z.6
Furey, T.S.7
Crawford, G.E.8
-
46
-
-
20444380510
-
Spatial distribution of di- and tri-methyl lysine 36 of histone H3 at active genes
-
10.1074/jbc.M500796200, 15760899
-
Bannister AJ, Schneider R, Myers FA, Thorne AW, Crane-Robinson C, Kouzarides T. Spatial distribution of di- and tri-methyl lysine 36 of histone H3 at active genes. J Biol Chem 2005, 280(18):17732-17736. 10.1074/jbc.M500796200, 15760899.
-
(2005)
J Biol Chem
, vol.280
, Issue.18
, pp. 17732-17736
-
-
Bannister, A.J.1
Schneider, R.2
Myers, F.A.3
Thorne, A.W.4
Crane-Robinson, C.5
Kouzarides, T.6
-
47
-
-
46249112085
-
Combinatorial patterns of histone acetylations and methylations in the human genome
-
10.1038/ng.154, 2769248, 18552846
-
Wang Z, Zang C, Rosenfeld JA, Schones DE, Barski A, Cuddapah S, Cui K, Roh TY, Peng W, Zhang MQ, et al. Combinatorial patterns of histone acetylations and methylations in the human genome. Nat Genet 2008, 40(7):897-903. 10.1038/ng.154, 2769248, 18552846.
-
(2008)
Nat Genet
, vol.40
, Issue.7
, pp. 897-903
-
-
Wang, Z.1
Zang, C.2
Rosenfeld, J.A.3
Schones, D.E.4
Barski, A.5
Cuddapah, S.6
Cui, K.7
Roh, T.Y.8
Peng, W.9
Zhang, M.Q.10
-
48
-
-
0842321501
-
MicroRNA targets in Drosophila
-
10.1186/gb-2003-5-1-r1, 395733, 14709173
-
Enright AJ, John B, Gaul U, Tuschl T, Sander C, Marks DS. MicroRNA targets in Drosophila. Genome Biol 2003, 5(1):R1. 10.1186/gb-2003-5-1-r1, 395733, 14709173.
-
(2003)
Genome Biol
, vol.5
, Issue.1
-
-
Enright, A.J.1
John, B.2
Gaul, U.3
Tuschl, T.4
Sander, C.5
Marks, D.S.6
-
49
-
-
14044251458
-
Human MicroRNA targets
-
10.1371/journal.pbio.0020363, 521178, 15502875
-
John B, Enright AJ, Aravin A, Tuschl T, Sander C, Marks DS. Human MicroRNA targets. PLoS Biol 2004, 2(11):e363. 10.1371/journal.pbio.0020363, 521178, 15502875.
-
(2004)
PLoS Biol
, vol.2
, Issue.11
-
-
John, B.1
Enright, A.J.2
Aravin, A.3
Tuschl, T.4
Sander, C.5
Marks, D.S.6
-
50
-
-
38549124383
-
The microRNA.org resource: targets and expression
-
Database issue, 2238905, 18158296
-
Betel D, Wilson M, Gabow A, Marks DS, Sander C. The microRNA.org resource: targets and expression. Nucleic Acids Res 2008, 36(Database issue):D149-153. 2238905, 18158296.
-
(2008)
Nucleic Acids Res
, vol.36
-
-
Betel, D.1
Wilson, M.2
Gabow, A.3
Marks, D.S.4
Sander, C.5
-
51
-
-
0031480089
-
Multiple hypothesis testing with weights
-
Benjamini Y, Hochberg Y. Multiple hypothesis testing with weights. Scand J Statist 1997, 24:407-418.
-
(1997)
Scand J Statist
, vol.24
, pp. 407-418
-
-
Benjamini, Y.1
Hochberg, Y.2
-
52
-
-
33750168129
-
False discovery control with p-value weighting
-
Genovese CR, Roeder K, Wasserman L. False discovery control with p-value weighting. Biometrika 2006, 93(3):509-524.
-
(2006)
Biometrika
, vol.93
, Issue.3
, pp. 509-524
-
-
Genovese, C.R.1
Roeder, K.2
Wasserman, L.3
-
53
-
-
31544449191
-
Using linkage genome scans to improve power of association in genome scans
-
10.1086/500026, 1380233, 16400608
-
Roeder K, Bacanu SA, Wasserman L, Devlin B. Using linkage genome scans to improve power of association in genome scans. Am J Hum Genet 2006, 78(2):243-252. 10.1086/500026, 1380233, 16400608.
-
(2006)
Am J Hum Genet
, vol.78
, Issue.2
, pp. 243-252
-
-
Roeder, K.1
Bacanu, S.A.2
Wasserman, L.3
Devlin, B.4
-
54
-
-
34547788766
-
Enriching the analysis of genomewide association studies with hierarchical modeling
-
10.1086/519794, 1950795, 17668389
-
Chen GK, Witte JS. Enriching the analysis of genomewide association studies with hierarchical modeling. American journal of human genetics 2007, 81(2):397-404. 10.1086/519794, 1950795, 17668389.
-
(2007)
American journal of human genetics
, vol.81
, Issue.2
, pp. 397-404
-
-
Chen, G.K.1
Witte, J.S.2
-
55
-
-
38049023107
-
Hierarchical Bayes prioritization of marker associations from a genome-wide association scan for further investigation
-
10.1002/gepi.20248, 17654612
-
Lewinger JP, Conti DV, Baurley JW, Triche TJ, Thomas DC. Hierarchical Bayes prioritization of marker associations from a genome-wide association scan for further investigation. Genet Epidemiol 2007, 31(8):871-882. 10.1002/gepi.20248, 17654612.
-
(2007)
Genet Epidemiol
, vol.31
, Issue.8
, pp. 871-882
-
-
Lewinger, J.P.1
Conti, D.V.2
Baurley, J.W.3
Triche, T.J.4
Thomas, D.C.5
-
56
-
-
36248977635
-
Improving power in genome-wide association studies: weights tip the scale
-
10.1002/gepi.20237, 17549760
-
Roeder K, Devlin B, Wasserman L. Improving power in genome-wide association studies: weights tip the scale. Genetic epidemiology 2007, 31(7):741-747. 10.1002/gepi.20237, 17549760.
-
(2007)
Genetic epidemiology
, vol.31
, Issue.7
, pp. 741-747
-
-
Roeder, K.1
Devlin, B.2
Wasserman, L.3
-
57
-
-
53649101617
-
What would you do if you could sequence everything?
-
10.1038/nbt1494, 18846086
-
Kahvejian A, Quackenbush J, Thompson JF. What would you do if you could sequence everything?. Nat Biotechnol 2008, 26(10):1125-1133. 10.1038/nbt1494, 18846086.
-
(2008)
Nat Biotechnol
, vol.26
, Issue.10
, pp. 1125-1133
-
-
Kahvejian, A.1
Quackenbush, J.2
Thompson, J.F.3
-
58
-
-
53649106195
-
Next-generation DNA sequencing
-
10.1038/nbt1486, 18846087
-
Shendure J, Ji H. Next-generation DNA sequencing. Nat Biotechnol 2008, 26(10):1135-1145. 10.1038/nbt1486, 18846087.
-
(2008)
Nat Biotechnol
, vol.26
, Issue.10
, pp. 1135-1145
-
-
Shendure, J.1
Ji, H.2
-
59
-
-
84870440303
-
1000 Genomes
-
1000 Genomes. , http://www.1000genomes.org/
-
-
-
-
60
-
-
55549101623
-
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
-
10.1038/nature07485, 2603574, 18987736
-
Ley TJ, Mardis ER, Ding L, Fulton B, McLellan MD, Chen K, Dooling D, Dunford-Shore BH, McGrath S, Hickenbotham M, et al. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 2008, 456(7218):66-72. 10.1038/nature07485, 2603574, 18987736.
-
(2008)
Nature
, vol.456
, Issue.7218
, pp. 66-72
-
-
Ley, T.J.1
Mardis, E.R.2
Ding, L.3
Fulton, B.4
McLellan, M.D.5
Chen, K.6
Dooling, D.7
Dunford-Shore, B.H.8
McGrath, S.9
Hickenbotham, M.10
-
61
-
-
77950475726
-
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
-
10.1056/NEJMoa0908094, 20220177
-
Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 2010, 362(13):1181-1191. 10.1056/NEJMoa0908094, 20220177.
-
(2010)
N Engl J Med
, vol.362
, Issue.13
, pp. 1181-1191
-
-
Lupski, J.R.1
Reid, J.G.2
Gonzaga-Jauregui, C.3
Rio Deiros, D.4
Chen, D.C.5
Nazareth, L.6
Bainbridge, M.7
Dinh, H.8
Jing, C.9
Wheeler, D.A.10
-
62
-
-
22244452677
-
Distribution and intensity of constraint in mammalian genomic sequence
-
10.1101/gr.3577405, 1172034, 15965027
-
Cooper GM, Stone EA, Asimenos G, Green ED, Batzoglou S, Sidow A. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res 2005, 15(7):901-913. 10.1101/gr.3577405, 1172034, 15965027.
-
(2005)
Genome Res
, vol.15
, Issue.7
, pp. 901-913
-
-
Cooper, G.M.1
Stone, E.A.2
Asimenos, G.3
Green, E.D.4
Batzoglou, S.5
Sidow, A.6
-
63
-
-
33947201809
-
Analysis of the vertebrate insulator protein CTCF-binding sites in the human genome
-
10.1016/j.cell.2006.12.048, 2572726, 17382889
-
Kim TH, Abdullaev ZK, Smith AD, Ching KA, Loukinov DI, Green RD, Zhang MQ, Lobanenkov VV, Ren B. Analysis of the vertebrate insulator protein CTCF-binding sites in the human genome. Cell 2007, 128(6):1231-1245. 10.1016/j.cell.2006.12.048, 2572726, 17382889.
-
(2007)
Cell
, vol.128
, Issue.6
, pp. 1231-1245
-
-
Kim, T.H.1
Abdullaev, Z.K.2
Smith, A.D.3
Ching, K.A.4
Loukinov, D.I.5
Green, R.D.6
Zhang, M.Q.7
Lobanenkov, V.V.8
Ren, B.9
-
64
-
-
33644859558
-
CisRED: a database system for genome-scale computational discovery of regulatory elements
-
Database issue, 10.1093/nar/gkj075, 1347438, 16381958
-
Robertson G, Bilenky M, Lin K, He A, Yuen W, Dagpinar M, Varhol R, Teague K, Griffith OL, Zhang X, et al. cisRED: a database system for genome-scale computational discovery of regulatory elements. Nucleic Acids Res 2006, 34(Database issue):D68-73. 10.1093/nar/gkj075, 1347438, 16381958.
-
(2006)
Nucleic Acids Res
, vol.34
-
-
Robertson, G.1
Bilenky, M.2
Lin, K.3
He, A.4
Yuen, W.5
Dagpinar, M.6
Varhol, R.7
Teague, K.8
Griffith, O.L.9
Zhang, X.10
-
65
-
-
0032953881
-
Inferring the fitness effects of DNA mutations from polymorphism and divergence data: statistical power to detect directional selection under stationarity and free recombination
-
1460457, 9872962
-
Akashi H. Inferring the fitness effects of DNA mutations from polymorphism and divergence data: statistical power to detect directional selection under stationarity and free recombination. Genetics 1999, 151(1):221-238. 1460457, 9872962.
-
(1999)
Genetics
, vol.151
, Issue.1
, pp. 221-238
-
-
Akashi, H.1
-
66
-
-
54949108148
-
Enredo and Pecan: genome-wide mammalian consistency-based multiple alignment with paralogs
-
10.1101/gr.076554.108, 2577869, 18849524
-
Paten B, Herrero J, Beal K, Fitzgerald S, Birney E. Enredo and Pecan: genome-wide mammalian consistency-based multiple alignment with paralogs. Genome research 2008, 18(11):1814-1828. 10.1101/gr.076554.108, 2577869, 18849524.
-
(2008)
Genome research
, vol.18
, Issue.11
, pp. 1814-1828
-
-
Paten, B.1
Herrero, J.2
Beal, K.3
Fitzgerald, S.4
Birney, E.5
-
67
-
-
0001677717
-
Controlling the false discovery rate: a practical and powerful approach to multiple testing
-
Benjamini Y, Hochberg Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J Roy Statist Soc B 1995, 57(1):289-300.
-
(1995)
J Roy Statist Soc B
, vol.57
, Issue.1
, pp. 289-300
-
-
Benjamini, Y.1
Hochberg, Y.2
|