-
1
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
DOI 10.1038/35057062
-
Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, et al. (2001) Initial sequencing and analysis of the human genome. Nature 409:860-921. This paper marked the introduction of the completed draft sequence of the human genome, the core advance that enabled both large-scale genotyping and modern sequencing technology. (Pubitemid 32165345)
-
(2001)
Nature
, vol.409
, Issue.6822
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
Nusbaum, C.4
Zody, M.C.5
Baldwin, J.6
Devon, K.7
Dewar, K.8
Doyle, M.9
Fitzhugh, W.10
Funke, R.11
Gage, D.12
Harris, K.13
Heaford, A.14
Howland, J.15
Kann, L.16
Lehoczky, J.17
Levine, R.18
McEwan, P.19
McKernan, K.20
Meldrim, J.21
Mesirov, J.P.22
Miranda, C.23
Morris, W.24
Naylor, J.25
Raymond, C.26
Rosetti, M.27
Santos, R.28
Sheridan, A.29
Sougnez, C.30
Stange-Thomann, N.31
Stojanovic, N.32
Subramanian, A.33
Wyman, D.34
Rogers, J.35
Sulston, J.36
Ainscough, R.37
Beck, S.38
Bentley, D.39
Burton, J.40
Clee, C.41
Carter, N.42
Coulson, A.43
Deadman, R.44
Deloukas, P.45
Dunham, A.46
Dunham, I.47
Durbin, R.48
French, L.49
Grafham, D.50
Gregory, S.51
Hubbard, T.52
Humphray, S.53
Hunt, A.54
Jones, M.55
Lloyd, C.56
McMurray, A.57
Matthews, L.58
Mercer, S.59
Milne, S.60
Mullikin, J.C.61
Mungall, A.62
Plumb, R.63
Ross, M.64
Shownkeen, R.65
Sims, S.66
Waterston, R.H.67
Wilson, R.K.68
Hillier, L.W.69
McPherson, J.D.70
Marra, M.A.71
Mardis, E.R.72
Fulton, L.A.73
Chinwalla, A.T.74
Pepin, K.H.75
Gish, W.R.76
Chissoe, S.L.77
Wendl, M.C.78
Delehaunty, K.D.79
more..
-
2
-
-
77951731266
-
The pursuit of genomewide association studies: Where are we now?
-
Ku CS, Loy EY, Pawitan Y, and Chia KS (2010) The pursuit of genomewide association studies: Where are we now? J Hum Genet 55:195-206.
-
(2010)
J Hum Genet
, vol.55
, pp. 195-206
-
-
Ku, C.S.1
Loy, E.Y.2
Pawitan, Y.3
Chia, K.S.4
-
3
-
-
34748848639
-
The NCBI dbGaP database of genotypes and phenotypes
-
DOI 10.1038/ng1007-1181, PII NG10071181
-
Mailman MD, Feolo M, Jin Y, Kimura M, Tryka K, Bagoutdinov R, Hao L, Kiang A, Paschall J, Phan L, et al. (2007) The NCBI dbGaP database of genotypes and phenotypes. Nat Genet 39:1181-1186. (Pubitemid 47482671)
-
(2007)
Nature Genetics
, vol.39
, Issue.10
, pp. 1181-1186
-
-
Mailman, M.D.1
Feolo, M.2
Jin, Y.3
Kimura, M.4
Tryka, K.5
Bagoutdinov, R.6
Hao, L.7
Kiang, A.8
Paschall, J.9
Phan, L.10
Popova, N.11
Pretel, S.12
Ziyabari, L.13
Lee, M.14
Shao, Y.15
Wang, Z.Y.16
Sirotkin, K.17
Ward, M.18
Kholodov, M.19
Zbicz, K.20
Beck, J.21
Kimelman, M.22
Shevelev, S.23
Preuss, D.24
Yaschenko, E.25
Graeff, A.26
Ostell, J.27
Sherry, S.T.28
more..
-
4
-
-
0028034142
-
Of flies and fishes
-
Nüsslein-Volhard C (1994) Of flies and fishes. Science 266:572-574. (Pubitemid 24363509)
-
(1994)
Science
, vol.266
, Issue.5185
, pp. 572-574
-
-
Nusslein-Volhard, C.1
-
5
-
-
0034056133
-
Online Mendelian inheritance in man (OMIM) as a knowledgebase for human developmental disorders
-
Boyadjiev SA and Jabs EW (2000) Online Mendelian inheritance in man (OMIM) as a knowledgebase for human developmental disorders. Clin. Genet 57:253-266.
-
(2000)
Clin. Genet
, vol.57
, pp. 253-266
-
-
Boyadjiev, S.A.1
Jabs, E.W.2
-
6
-
-
41649087366
-
Family study designs in the age of genome-wide association studies: Experience from the Framingham Heart Study
-
DOI 10.1097/MOL.0b013e3282f73746, PII 0004143320080400000008
-
Cupples LA (2008) Family study designs in the age of genome-wide association studies: Experience from the Framingham Heart Study. Curr. Opin. Lipidol 19:144-150. (Pubitemid 351483301)
-
(2008)
Current Opinion in Lipidology
, vol.19
, Issue.2
, pp. 144-150
-
-
Cupples, L.A.1
-
7
-
-
35348983887
-
A second generation human haplotype map of over 3.1 million SNPs
-
International HapMap Consortium
-
International HapMap Consortium (2007) A second generation human haplotype map of over 3.1 million SNPs. Nature 449:851-861.
-
(2007)
Nature
, vol.449
, pp. 851-861
-
-
-
8
-
-
77956331627
-
Integrating common and rare genetic variation in diverse human populations
-
International HapMap 3 Consortium This is a highly informative paper detailing the HapMap v3 release and places particular emphasis on the distribution, nature, and significance of both common and rare variants within human populations, as well as detailing the challenges that remain
-
International HapMap 3 Consortium (2010) Integrating common and rare genetic variation in diverse human populations. Nature 467:52-58. This is a highly informative paper detailing the HapMap v3 release and places particular emphasis on the distribution, nature, and significance of both common and rare variants within human populations, as well as detailing the challenges that remain.
-
(2010)
Nature
, vol.467
, pp. 52-58
-
-
-
9
-
-
34250211432
-
A Brief Review of Short Tandem Repeat Mutation
-
DOI 10.1016/S1672-0229(07)60009-6, PII S1672022907600096
-
Fan H and Chu J (2007) A brief review of short tandem repeat mutation. Genomics Proteomics Bioinformatics 5:7-14. (Pubitemid 46899642)
-
(2007)
Genomics, Proteomics and Bioinformatics
, vol.5
, Issue.1
, pp. 7-14
-
-
Fan, H.1
Chu, J.-Y.2
-
10
-
-
77950121267
-
Gene copy number variation and common human disease
-
Fanciulli M, Petretto E, and Aitman TJ (2010) Gene copy number variation and common human disease. Clin Genet 77:201-213.
-
(2010)
Clin Genet
, vol.77
, pp. 201-213
-
-
Fanciulli, M.1
Petretto, E.2
Aitman, T.J.3
-
11
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
This article is the first major release of results from the 1000 Genomes Project. The authors detail the results of this massive genome sequencing project and its future directions
-
Durbin RM, Abecasis GR, Altshuler DL, Auton A, Brooks LD, Durbin RM, Gibbs R., Hurles ME, and McVean GA (2010) A map of human genome variation from population-scale sequencing. Nature 467:1061-1073. This article is the first major release of results from the 1000 Genomes Project. The authors detail the results of this massive genome sequencing project and its future directions.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
Durbin, R.M.1
Abecasis, G.R.2
Altshuler, D.L.3
Auton, A.4
Brooks, L.D.5
Durbin, R.M.6
Gibbs, R.7
Hurles, M.E.8
McVean, G.A.9
-
12
-
-
34147119077
-
Overcoming the winner's curse: Estimating penetrance parameters from case-control data
-
DOI 10.1086/512821
-
Zollner S and Pritchard JK (2007) Overcoming the winner's curse: Estimating penetrance parameters from case-control data. Am J Hum Genet 80:605-615. (Pubitemid 46564399)
-
(2007)
American Journal of Human Genetics
, vol.80
, Issue.4
, pp. 605-615
-
-
Zollner, S.1
Pritchard, J.K.2
-
13
-
-
79955659967
-
Statistical issues in gene association studies
-
Watanabe RM (2011) Statistical issues in gene association studies. Methods Mol Biol 700:17-36.
-
(2011)
Methods Mol Biol
, vol.700
, pp. 17-36
-
-
Watanabe, R.M.1
-
14
-
-
0033936872
-
Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays
-
DOI 10.1101/gr.10.6.853
-
Fan JB, Chen X, Halushka MK, Berno A, Huang X, Ryder T, Lipshutz RJ, Lockhart DJ, and Chakravarti A (2000) Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays. Genome Res 10:853-860. (Pubitemid 30433358)
-
(2000)
Genome Research
, vol.10
, Issue.6
, pp. 853-860
-
-
Fan, J.-B.1
Chen, X.2
Halushka, M.K.3
Berno, A.4
Huang, X.5
Ryder, T.6
Lipshutz, R.J.7
Lockhart, D.J.8
Chakravarti, A.9
-
15
-
-
0036275126
-
BeadArray technology: Enabling an accurate, cost-effective approach to highthroughput genotyping
-
Oliphant A, Barker DL, Stuelpnagel JR, and Chee MS (2002) BeadArray technology: Enabling an accurate, cost-effective approach to highthroughput genotyping. Biotechniques Suppl:56-58, 60-61.
-
(2002)
Biotechniques
, vol.56-58
, Issue.SUPPL.
, pp. 60-61
-
-
Oliphant, A.1
Barker, D.L.2
Stuelpnagel, J.R.3
Chee, M.S.4
-
16
-
-
78049445625
-
Designs for linkage analysis and association studies of complex diseases
-
Cui Y, Li G, Li S, and Wu R (2010) Designs for linkage analysis and association studies of complex diseases. Methods Mol Biol 620:219-242.
-
(2010)
Methods Mol Biol
, vol.620
, pp. 219-242
-
-
Cui, Y.1
Li, G.2
Li, S.3
Wu, R.4
-
17
-
-
79953731324
-
Lipoprotein association studies: Taking stock and moving forward
-
doi:10.1097/MOL.0b013e3283423f81
-
Talmud PJ, Yiannakouris N, and Humphries SE (2010) Lipoprotein association studies: Taking stock and moving forward. Curr Opin Lipidol doi:10.1097/MOL.0b013e3283423f81
-
(2010)
Curr Opin Lipidol
-
-
Talmud, P.J.1
Yiannakouris, N.2
Humphries, S.E.3
-
18
-
-
77952494314
-
Application of gene network analysis techniques identifies AXIN1/PDIA2 and endoglin haplotypes associated with bicuspid aortic valve
-
Wooten EC, Iyer LK, Montefusco MC, Hedgepeth AK, Payne DD, Kapur NK, Housman DE, Mendelsohn ME, and Huggins, GS (2010) Application of gene network analysis techniques identifies AXIN1/PDIA2 and endoglin haplotypes associated with bicuspid aortic valve. PLoS ONE 5:e8830.
-
(2010)
PLoS ONE
, vol.5
-
-
Wooten, E.C.1
Iyer, L.K.2
Montefusco, M.C.3
Hedgepeth, A.K.4
Payne, D.D.5
Kapur, N.K.6
Housman, D.E.7
Mendelsohn, M.E.8
Huggins, G.S.9
-
19
-
-
78649522135
-
Using biological knowledge to discover higher order interactions in genetic association studies
-
Chen GK and Thomas DC (2010) Using biological knowledge to discover higher order interactions in genetic association studies. Genet Epidemiol 34:863-878.
-
(2010)
Genet Epidemiol
, vol.34
, pp. 863-878
-
-
Chen, G.K.1
Thomas, D.C.2
-
20
-
-
27644439141
-
Efficiency and power in genetic association studies
-
DOI 10.1038/ng1669, PII N1669
-
de Bakker PIW, Yelensky R, Pe'er I, Gabriel SB, Daly MJ, and Altshuler D (2005) Efficiency and power in genetic association studies. Nat Genet 37:1217-1223. Coupled with reference 21, this publication set the baseline standards for cohort design and the expectations for power to detect associations by GWASs. (Pubitemid 41568704)
-
(2005)
Nature Genetics
, vol.37
, Issue.11
, pp. 1217-1223
-
-
De Bakker, P.I.W.1
Yelensky, R.2
Pe'Er, I.3
Gabriel, S.B.4
Daly, M.J.5
Altshuler, D.6
-
21
-
-
33745279392
-
Evaluating and improving power in whole-genome association studies using fixed marker sets
-
DOI 10.1038/ng1816, PII N1816
-
Pe'er I, de Bakker PIW, Maller J, Yelensky R, Altshuler D, and Daly MJ (2006) Evaluating and improving power in whole-genome association studies using fixed marker sets. Nat. Genet 38:663-667. This is a detailed publication that models the efficacy of various experimental designs and genotyping platforms across different populations with definitive predictions for necessary cohort size relative to observed effect size within the phenotype under study. (Pubitemid 43927308)
-
(2006)
Nature Genetics
, vol.38
, Issue.6
, pp. 663-667
-
-
Pe'er, I.1
De Bakker, P.I.W.2
Maller, J.3
Yelensky, R.4
Altshuler, D.5
Daly, M.J.6
-
22
-
-
64849114915
-
Codingsequence determinants of gene expression in Escherichia coli
-
Kudla G, Murray AW, Tollervey D, and Plotkin JB (2009) Codingsequence determinants of gene expression in Escherichia coli. Science 324:255-258.
-
(2009)
Science
, vol.324
, pp. 255-258
-
-
Kudla, G.1
Murray, A.W.2
Tollervey, D.3
Plotkin, J.B.4
-
23
-
-
25144501575
-
Genetic association studies
-
DOI 10.1016/S0140-6736(05)67424-7, PII S0140673605674247
-
Cordell HJ and Clayton DG (2005) Genetic association studies. Lancet 366:1121-1131. (Pubitemid 41338767)
-
(2005)
Lancet
, vol.366
, Issue.9491
, pp. 1121-1131
-
-
Cordell, H.J.1
Clayton, D.G.2
-
24
-
-
0034100201
-
The role of population size, pleiotropy and fitness effects of mutations in the evolution of overlapping gene functions
-
Wagner A (2000) The role of population size, pleiotropy and fitness effects of mutations in the evolution of overlapping gene functions. Genetics 154:1389-1401. (Pubitemid 30140721)
-
(2000)
Genetics
, vol.154
, Issue.3
, pp. 1389-1401
-
-
Wagner, A.1
-
25
-
-
0034969437
-
Are rare variants responsible for susceptibility to complex diseases?
-
DOI 10.1086/321272
-
Pritchard JK (2001) Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 69:124-137. An early publication focused on the challenges of studying rare and common variants against common diseases. (Pubitemid 32614025)
-
(2001)
American Journal of Human Genetics
, vol.69
, Issue.1
, pp. 124-137
-
-
Pritchard, J.K.1
-
26
-
-
68649101805
-
Common vs. rare allele hypotheses for complex diseases
-
This is an extremely thorough manuscript that examines the "common disease, common variant" hypothesis in contrast to the "common disease, rare variant" hypothesis. This article makes a strong case that there is no fundamentally unbridgeable divide between the two alternate hypotheses
-
Schork NJ, Murray SS, Frazer KA, and Topol EJ (2009) Common vs. rare allele hypotheses for complex diseases. Curr Opin Genet Dev 19:212- 219. This is an extremely thorough manuscript that examines the "common disease, common variant" hypothesis in contrast to the "common disease, rare variant" hypothesis. This article makes a strong case that there is no fundamentally unbridgeable divide between the two alternate hypotheses.
-
(2009)
Curr Opin Genet Dev
, vol.19
, pp. 212-219
-
-
Schork, N.J.1
Murray, S.S.2
Frazer, K.A.3
Topol, E.J.4
-
27
-
-
77951702343
-
Genetic heterogeneity in human disease
-
McClellan J and King M (2010) Genetic heterogeneity in human disease. Cell 141:210-217.
-
(2010)
Cell
, vol.141
, pp. 210-217
-
-
McClellan, J.1
King, M.2
-
28
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
This essential review covers all aspects of the "missing" heritability of GWAS and other genome-wide analyses to date while providing a theoretical framework for ongoing and future experiments into the question
-
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, et al. (2009) Finding the missing heritability of complex diseases. Nature 461:747- 753. This essential review covers all aspects of the "missing" heritability of GWAS and other genome-wide analyses to date while providing a theoretical framework for ongoing and future experiments into the question.
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
Goldstein, D.B.4
Hindorff, L.A.5
Hunter, D.J.6
McCarthy, M.I.7
Ramos, E.M.8
Cardon, L.R.9
Chakravarti, A.10
-
29
-
-
0036799545
-
The allelic architecture of human disease genes: Common disease - Common variant... or not?
-
Pritchard JK and Cox NJ (2002) The allelic architecture of human disease genes: Common disease-common variant...or not? Hum. Mol. Genet 11:2417-2423. (Pubitemid 35174705)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.20
, pp. 2417-2423
-
-
Pritchard, J.K.1
Cox, N.J.2
-
30
-
-
52949093871
-
African genetic diversity: Implications for human demographic history, modern human origins, and complex disease mapping
-
Campbell MC and Tishkoff SA (2008) African genetic diversity: Implications for human demographic history, modern human origins, and complex disease mapping. Annu Rev Genom Human Genet 9:403-433.
-
(2008)
Annu Rev Genom Human Genet
, vol.9
, pp. 403-433
-
-
Campbell, M.C.1
Tishkoff, S.A.2
-
31
-
-
38649110731
-
A treasure trove for lipoprotein biology
-
DOI 10.1038/ng0208-129, PII NG0208129
-
Lusis AJ and Pajukanta P (2008) A treasure trove for lipoprotein biology. Nat Genet 40:129-130. (Pubitemid 351171408)
-
(2008)
Nature Genetics
, vol.40
, Issue.2
, pp. 129-130
-
-
Lusis, A.J.1
Pajukanta, P.2
-
32
-
-
58149163149
-
Common variants at 30 loci contribute to polygenic dyslipidemia
-
This important study identified both expected and novel associations of genes with lipid disorders. In addition the study demonstrated that GWAS results could be complemented by analysis of gene expression and allele dosage on trait
-
Kathiresan S, Willer CJ, Peloso GM, Demissie S, Musunuru K, Schadt EE, Kaplan L, Bennett D, Li Y, Tanaka T, et al. (2009) Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet 41:56-65. This important study identified both expected and novel associations of genes with lipid disorders. In addition the study demonstrated that GWAS results could be complemented by analysis of gene expression and allele dosage on trait.
-
(2009)
Nat Genet
, vol.41
, pp. 56-65
-
-
Kathiresan, S.1
Willer, C.J.2
Peloso, G.M.3
Demissie, S.4
Musunuru, K.5
Schadt, E.E.6
Kaplan, L.7
Bennett, D.8
Li, Y.9
Tanaka, T.10
-
33
-
-
78649717215
-
An evolutionary framework for association testing in resequencing studies
-
King CR, Rathouz PJ, and Nicolae DL (2010) An evolutionary framework for association testing in resequencing studies. PLoS Genet 6:e1001202.
-
(2010)
PLoS Genet
, vol.6
-
-
King, C.R.1
Rathouz, P.J.2
Nicolae, D.L.3
-
34
-
-
33846978695
-
Relative impact of nucleotide and copy number variation on gene expression phenotypes
-
In this seminal paper, the authors demonstrate that large structural variations in the genome characterized by differences in copy number are associated with gene expression patterns
-
Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C, Thorne N, Redon R, Bird CP, de Grassi A, Lee C, et al. (2007) Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 315:848-853. In this seminal paper, the authors demonstrate that large structural variations in the genome characterized by differences in copy number are associated with gene expression patterns.
-
(2007)
Science
, vol.315
, pp. 848-853
-
-
Stranger, B.E.1
Forrest, M.S.2
Dunning, M.3
Ingle, C.E.4
Beazley, C.5
Thorne, N.6
Redon, R.7
Bird, C.P.8
De Grassi, A.9
Lee, C.10
-
35
-
-
79951521421
-
Progress and promise of genome-wide association studies for human complex trait genetics
-
doi:10.1534/genetics.110.120907
-
Stranger BE, Stahl EA, and Raj T (2010) Progress and promise of genome-wide association studies for human complex trait genetics. Genetics doi:10.1534/genetics.110.120907
-
(2010)
Genetics
-
-
Stranger, B.E.1
Stahl, E.A.2
Raj, T.3
-
36
-
-
67651227407
-
Assessing the impact of transgenerational epigenetic variation on complex traits
-
Johannes F, Porcher E, Teixeira FK, Saliba-Colombani V, Simon M, Agier N, Bulski A, Albuisson J, Heredia F, Audigier P, et al. (2009) Assessing the impact of transgenerational epigenetic variation on complex traits. PLoS Genet 5:e1000530.
-
(2009)
PLoS Genet
, vol.5
-
-
Johannes, F.1
Porcher, E.2
Teixeira, F.K.3
Saliba-Colombani, V.4
Simon, M.5
Agier, N.6
Bulski, A.7
Albuisson, J.8
Heredia, F.9
Audigier, P.10
-
37
-
-
34250305146
-
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
-
DOI 10.1038/nature05874, PII NATURE05874
-
Birney E, Stamatoyannopoulos JA, Dutta A, Guigó R, Gingeras TR, Margulies EH, Weng Z, Snyder M, Dermitzakis ET, Thurman RE, et al. (2007) Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 447:799-816. This manuscript describes the first major ENCODE data release, including a plethora of functionally relevant information that, in many ways, fundamentally altered the way researchers approach the issues of genomic structure and local transcriptional regulation. (Pubitemid 46920138)
-
(2007)
Nature
, vol.447
, Issue.7146
, pp. 799-816
-
-
Birney, E.1
Stamatoyannopoulos, J.A.2
Dutta, A.3
Guigo, R.4
Gingeras, T.R.5
Margulies, E.H.6
Weng, Z.7
Snyder, M.8
Dermitzakis, E.T.9
Thurman, R.E.10
Kuehn, M.S.11
Taylor, C.M.12
Neph, S.13
Koch, C.M.14
Asthana, S.15
Malhotra, A.16
Adzhubei, I.17
Greenbaum, J.A.18
Andrews, R.M.19
Flicek, P.20
Boyle, P.J.21
Cao, H.22
Carter, N.P.23
Clelland, G.K.24
Davis, S.25
Day, N.26
Dhami, P.27
Dillon, S.C.28
Dorschner, M.O.29
Fiegler, H.30
Giresi, P.G.31
Goldy, J.32
Hawrylycz, M.33
Haydock, A.34
Humbert, R.35
James, K.D.36
Johnson, B.E.37
Johnson, E.M.38
Frum, T.T.39
Rosenzweig, E.R.40
Karnani, N.41
Lee, K.42
Lefebvre, G.C.43
Navas, P.A.44
Neri, F.45
Parker, S.C.J.46
Sabo, P.J.47
Sandstrom, R.48
Shafer, A.49
Vetrie, D.50
Weaver, M.51
Wilcox, S.52
Yu, M.53
Collins, F.S.54
Dekker, J.55
Lieb, J.D.56
Tullius, T.D.57
Crawford, G.E.58
Sunyaev, S.59
Noble, W.S.60
Dunham, I.61
Denoeud, F.62
Reymond, A.63
Kapranov, P.64
Rozowsky, J.65
Zheng, D.66
Castelo, R.67
Frankish, A.68
Harrow, J.69
Ghosh, S.70
Sandelin, A.71
Hofacker, I.L.72
Baertsch, R.73
Keefe, D.74
Dike, S.75
Cheng, J.76
Hirsch, H.A.77
Sekinger, E.A.78
Lagarde, J.79
Abril, J.F.80
Shahab, A.81
Flamm, C.82
Fried, C.83
Hackermuller, J.84
Hertel, J.85
Lindemeyer, M.86
Missal, K.87
Tanzer, A.88
more..
-
38
-
-
78651310799
-
Database resources of the National Center for Biotechnology Information
-
In this informative and regularly updated series of papers, the current offerings of the NCBI and some of the methods by which they can be leveraged are detailed and defined; an essential resource for pursuing the broader concepts detailed in our Viewpoint
-
Sayers EW, Barrett T, Benson DA, Bolton E, Bryant SH, Canese K, Chetvernin V, Church DM, DiCuccio M, Federhen S, et al. (2011) Database resources of the National Center for Biotechnology Information. Nucleic Acids Res 39:D38-D51. In this informative and regularly updated series of papers, the current offerings of the NCBI and some of the methods by which they can be leveraged are detailed and defined; an essential resource for pursuing the broader concepts detailed in our Viewpoint.
-
(2011)
Nucleic Acids Res
, vol.39
-
-
Sayers, E.W.1
Barrett, T.2
Benson, D.A.3
Bolton, E.4
Bryant, S.H.5
Canese, K.6
Chetvernin, V.7
Church, D.M.8
DiCuccio, M.9
Federhen, S.10
-
39
-
-
70350646912
-
Twenty bone-mineral-density loci identified by large-scale metaanalysis of genome-wide association studies
-
Rivadeneira F, Styrkársdottir U, Estrada K, Halldórsson BV, Hsu YH, Richards JB, Zillikens MC, Kavvoura FK, Amin N, Aulchenko YS, et al. (2009) Twenty bone-mineral-density loci identified by large-scale metaanalysis of genome-wide association studies. Nat Genet 41:1199-1206.
-
(2009)
Nat Genet
, vol.41
, pp. 1199-1206
-
-
Rivadeneira, F.1
Styrkársdottir, U.2
Estrada, K.3
Halldórsson, B.V.4
Hsu, Y.H.5
Richards, J.B.6
Zillikens, M.C.7
Kavvoura, F.K.8
Amin, N.9
Aulchenko, Y.S.10
-
40
-
-
42349106044
-
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
-
DOI 10.1038/ng.120, PII NG120
-
Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL, Hu T, de Bakker PI, Abecasis GR, Almgren P, Andersen G, et al. (2008) Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet 40:638-645. (Pubitemid 351601209)
-
(2008)
Nature Genetics
, vol.40
, Issue.5
, pp. 638-645
-
-
Zeggini, E.1
Scott, L.J.2
Saxena, R.3
Voight, B.F.4
-
41
-
-
67649876123
-
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci
-
De Jager PL, Jia X, Wang J, de Bakker PIW, Ottoboni L, Aggarwal NT, Piccio L, Raychaudhuri S, Tran D, Aubin C, et al. (2009) Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Nat Genet 41:776-782.
-
(2009)
Nat Genet
, vol.41
, pp. 776-782
-
-
De Jager, P.L.1
Jia, X.2
Wang, J.3
De Bakker, P.I.W.4
Ottoboni, L.5
Aggarwal, N.T.6
Piccio, L.7
Raychaudhuri, S.8
Tran, D.9
Aubin, C.10
-
42
-
-
33749013001
-
Implications of small effect sizes of individual genetic variants on the design and interpretation of genetic association studies of complex diseases
-
DOI 10.1093/aje/kwj259
-
Ioannidis JPA, Trikalinos TA, and Khoury MJ (2006) Implications of small effect sizes of individual genetic variants on the design and interpretation of genetic association studies of complex diseases. Am. J. Epidemiol 164:609-614. This is an important analysis of cohort design, anticipated effect size, and methods to avoid both over-estimated effect size and false associations. (Pubitemid 44453487)
-
(2006)
American Journal of Epidemiology
, vol.164
, Issue.7
, pp. 609-614
-
-
Ioannidis, J.P.A.1
Trikalinos, T.A.2
Khoury, M.J.3
-
43
-
-
55749092742
-
Genetics of the Framingham Heart Study population
-
Govindaraju DR, Cupples LA, Kannel WB, O'Donnell CJ, Atwood LD, D'Agostino RB, Fox CS, Larson M, Levy D, Murabito J, et al. (2008) Genetics of the Framingham Heart Study population. Adv. Genet 62:33-65.
-
(2008)
Adv. Genet
, vol.62
, pp. 33-65
-
-
Govindaraju, D.R.1
Cupples, L.A.2
Kannel, W.B.3
O'Donnell, C.J.4
Atwood, L.D.5
D'Agostino, R.B.6
Fox, C.S.7
Larson, M.8
Levy, D.9
Murabito, J.10
-
44
-
-
57249114505
-
SNAP: A web-based tool for identification and annotation of proxy SNPs using HapMap
-
This manuscript details the use of SNAP for integrating multiple platforms or finding SNP proxies within an existing fixed genotype platform for association analysis
-
Johnson AD, Handsaker RE, Pulit SL, Nizzari MM, O'Donnell CJ, and de Bakker PIW (2008) SNAP: A web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics 24:2938-2939. This manuscript details the use of SNAP for integrating multiple platforms or finding SNP proxies within an existing fixed genotype platform for association analysis.
-
(2008)
Bioinformatics
, vol.24
, pp. 2938-2939
-
-
Johnson, A.D.1
Handsaker, R.E.2
Pulit, S.L.3
Nizzari, M.M.4
O'Donnell, C.J.5
De Bakker, P.I.W.6
-
45
-
-
70149100044
-
Evolutionary processes acting on candidate cis-regulatory regions in humans inferred from patterns of polymorphism and divergence
-
This is a fascinating study describing how upstream regulatory elements can be better understood within a broader framework of local genomic structure, variation, and evolutionary pressure
-
Torgerson DG, Boyko AR, Hernandez RD, Indap A, Hu X, White TJ, Sninsky JJ, Cargill M, Adams MD, Bustamante CD, et al. (2009) Evolutionary processes acting on candidate cis-regulatory regions in humans inferred from patterns of polymorphism and divergence. PLoS Genet 5:e1000592. This is a fascinating study describing how upstream regulatory elements can be better understood within a broader framework of local genomic structure, variation, and evolutionary pressure.
-
(2009)
PLoS Genet
, vol.5
-
-
Torgerson, D.G.1
Boyko, A.R.2
Hernandez, R.D.3
Indap, A.4
Hu, X.5
White, T.J.6
Sninsky, J.J.7
Cargill, M.8
Adams, M.D.9
Bustamante, C.D.10
-
46
-
-
36248975593
-
Optimal designs for two-stage genome-wide association studies
-
DOI 10.1002/gepi.20240
-
Skol AD, Scott LJ, Abecasis GR, and Boehnke M (2007) Optimal designs for two-stage genome-wide association studies. Genet Epidemiol 31:776-788. (Pubitemid 350133976)
-
(2007)
Genetic Epidemiology
, vol.31
, Issue.7
, pp. 776-788
-
-
Skol, A.D.1
Scott, L.J.2
Abecasis, G.R.3
Boehnke, M.4
-
47
-
-
35948953262
-
Power to detect risk alleles using genome-wide tag SNP panels
-
DOI 10.1371/journal.pgen.0030170
-
Eberle MA, Ng PC, Kuhn K, Zhou L, Peiffer DA, Galver L, Viaud- Martinez KA, Lawley CT, Gunderson KL, Shen R, et al. (2007) Power to detect risk alleles using genome-wide tag SNP panels. PLoS Genetics 3:1827-1837. (Pubitemid 350072049)
-
(2007)
PLoS Genetics
, vol.3
, Issue.10
, pp. 1827-1837
-
-
Eberle, M.A.1
Ng, P.C.2
Kuhn, K.3
Zhou, L.4
Peiffer, D.A.5
Galver, L.6
Viaud-Martinez, K.A.7
Lawley, C.T.8
Gunderson, K.L.9
Shen, R.10
Murray, S.S.11
-
48
-
-
66349103652
-
Rapid and accurate multiple testing correction and power estimation for millions of correlated markers
-
Han B, Kang HM, and Eskin E (2009) Rapid and accurate multiple testing correction and power estimation for millions of correlated markers. PLoS Genet 5:e1000456.
-
(2009)
PLoS Genet
, vol.5
-
-
Han, B.1
Kang, H.M.2
Eskin, E.3
-
49
-
-
58949097433
-
CANDID: A flexible method for prioritizing candidate genes for complex human traits Genet
-
Hutz JE, Kraja AT, McLeod HL, and Province MA (2008) CANDID: A flexible method for prioritizing candidate genes for complex human traits. Genet. Epidemiol 32:779-790.
-
(2008)
Epidemiol
, vol.32
, pp. 779-790
-
-
Hutz, J.E.1
Kraja, A.T.2
McLeod, H.L.3
Province, M.A.4
-
50
-
-
33846086800
-
STRING 7 - Recent developments in the integration and prediction of protein interactions
-
DOI 10.1093/nar/gkl825
-
von Mering C, Jensen LJ, Kuhn M, Chaffron S, Doerks T, Kruger B, Snel B, and Bork P (2007) STRING 7-recent developments in the integration and prediction of protein interactions. Nucl Acids Res. 35:D358-D362. (Pubitemid 46056231)
-
(2007)
Nucleic Acids Research
, vol.35
, Issue.SUPPL. 1
-
-
Von Mering, C.1
Jensen, L.J.2
Kuhn, M.3
Chaffron, S.4
Doerks, T.5
Kruger, B.6
Snel, B.7
Bork, P.8
-
51
-
-
48449097800
-
ENDEAVOUR update: A web resource for gene prioritization in multiple species
-
doi:10.1093/nar/gkn325
-
Tranchevent L, Barriot R, Yu S, Vooren SV, Loo PV, Coessens B, Moor BD, Aerts S, and Moreau Y (2008) ENDEAVOUR update: A web resource for gene prioritization in multiple species. Nucl Acids Res doi:10.1093/nar/gkn325
-
(2008)
Nucl Acids Res
-
-
Tranchevent, L.1
Barriot, R.2
Yu, S.3
Vooren, S.V.4
Loo, P.V.5
Coessens, B.6
Moor, B.D.7
Aerts, S.8
Moreau, Y.9
-
52
-
-
38049046064
-
Analysis of multiple SNPs in genetic association studies: Comparison of three multilocus methods to prioritize and select SNPs
-
Heidema AG, Feskens EJM, Doevendans PAFM, Ruven HJT, van Houwelingen HC, Mariman ECM, and Boer JMA (2007) Analysis of multiple SNPs in genetic association studies: Comparison of three multilocus methods to prioritize and select SNPs. Genet Epidemiol 31:910-921.
-
(2007)
Genet Epidemiol
, vol.31
, pp. 910-921
-
-
Heidema, A.G.1
Feskens, E.J.M.2
Doevendans, P.A.F.M.3
Ruven, H.J.T.4
Van Houwelingen, H.C.5
Mariman, E.C.M.6
Boer, J.M.A.7
-
53
-
-
12744259874
-
Identifying SNPs predictive of phenotype using random forests
-
Bureau A, Dupuis J, Falls K, Lunetta KL, Hayward B, Keith TP, and Van Eerdewegh P (2005) Identifying SNPs predictive of phenotype using random forests. Genet Epidemiol 28:171-182.
-
(2005)
Genet Epidemiol
, vol.28
, pp. 171-182
-
-
Bureau, A.1
Dupuis, J.2
Falls, K.3
Lunetta, K.L.4
Hayward, B.5
Keith, T.P.6
Van Eerdewegh, P.7
-
54
-
-
77954485448
-
On safari to Random Jungle: A fast implementation of Random Forests for high-dimensional data
-
Schwarz DF, König IR, and Ziegler A (2010) On safari to Random Jungle: A fast implementation of Random Forests for high-dimensional data. Bioinformatics 26:1752-1758.
-
(2010)
Bioinformatics
, vol.26
, pp. 1752-1758
-
-
Schwarz, D.F.1
König, I.R.2
Ziegler, A.3
|