-
1
-
-
58049217860
-
-
European Bioinformatics Institute, European Bioinformatics Institute, Available at
-
Hindorff LA, MacArthur, J. (European Bioinformatics Institute), Morales J., et al. (European Bioinformatics Institute) A catalog of published genome-wide association studies. Available at www.genome.gov/gwastudies, 2013.
-
(2013)
A Catalog of Published Genome-Wide Association Studies
-
-
Hindorff, L.A.1
Macarthur, J.2
Morales, J.3
-
2
-
-
84865822182
-
Systematic localization of common disease-associated variation in regulatory DNA
-
Maurano MT, Humbert R, Rynes E, et al. Systematic localization of common disease-associated variation in regulatory DNA. Science. 2012;337(6099):1190-5.
-
(2012)
Science
, vol.337
, Issue.6099
, pp. 1190-1195
-
-
Maurano, M.T.1
Humbert, R.2
Rynes, E.3
-
3
-
-
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(7265):747-53.
-
(2009)
Nature
, vol.461
, Issue.7265
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
-
5
-
-
34248336122
-
PhenCode: Connecting ENCODE data with mutations and phenotype
-
Giardine B, Riemer C, Hefferon T, et al. PhenCode: connecting ENCODE data with mutations and phenotype. Hum Mutat. 2007;28(6):554-62.
-
(2007)
Hum Mutat
, vol.28
, Issue.6
, pp. 554-562
-
-
Giardine, B.1
Riemer, C.2
Hefferon, T.3
-
6
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7(4):248-9.
-
(2010)
Nat Methods
, vol.7
, Issue.4
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
-
7
-
-
0033976585
-
ProTherm, version 2.0: Thermodynamic database for proteins and mutants
-
Gromiha MM, An J, Kono H, et al. ProTherm, version 2.0: thermodynamic database for proteins and mutants. Nucleic Acids Res. 2000;28(1):283-5.
-
(2000)
Nucleic Acids Res
, vol.28
, Issue.1
, pp. 283-285
-
-
Gromiha, M.M.1
An, J.2
Kono, H.3
-
8
-
-
0035176895
-
Thermodynamic database for protein-nucleic acid interactions (ProNIT)
-
Prabakaran P, An J, Gromiha MM, et al. Thermodynamic database for protein-nucleic acid interactions (ProNIT). Bioinformatics. 2001;17(11):1027-34.
-
(2001)
Bioinformatics
, vol.17
, Issue.11
, pp. 1027-1034
-
-
Prabakaran, P.1
An, J.2
Gromiha, M.M.3
-
9
-
-
84865790047
-
An integrated encyclopedia of DNA elements in the human genome
-
ENCODE Project Consortium
-
ENCODE Project Consortium, Bernstein BE, Birney E, et al. An integrated encyclopedia of DNA elements in the human genome. Nature. 2012;489(7414):57-74.
-
(2012)
Nature
, vol.489
, Issue.7414
, pp. 57-74
-
-
Bernstein, B.E.1
Birney, E.2
-
10
-
-
84862263248
-
The NIH roadmap epigenomics program data resource
-
Chadwick LH. The NIH roadmap epigenomics program data resource. Epigenomics. 2012;4(3):317-24.
-
(2012)
Epigenomics
, vol.4
, Issue.3
, pp. 317-324
-
-
Chadwick, L.H.1
-
11
-
-
84879786890
-
A brief review on the human encyclopedia of DNA elements (ENCODE) project
-
Qu H, Fang X. A brief review on the human encyclopedia of DNA elements (ENCODE) project. Genomics Proteomics Bioinformatics. 2013;11(3):135-41.
-
(2013)
Genomics Proteomics Bioinformatics
, vol.11
, Issue.3
, pp. 135-141
-
-
Qu, H.1
Fang, X.2
-
12
-
-
78651237647
-
Identifying a high fraction of the human genome to be under selective constraint using GERP++
-
Davydov EV, Goode DL, Sirota M, Cooper GM, Sidow A, Batzoglou S. Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput Biol. 2010;6(12):e1001025.
-
(2010)
PLoS Comput Biol
, vol.6
, Issue.12
-
-
Davydov, E.V.1
Goode, D.L.2
Sirota, M.3
Cooper, G.M.4
Sidow, A.5
Batzoglou, S.6
-
13
-
-
23744458086
-
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
-
Siepel A, Bejerano G, Pedersen JS, et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res. 2005;15(8):1034-50.
-
(2005)
Genome Res
, vol.15
, Issue.8
, pp. 1034-1050
-
-
Siepel, A.1
Bejerano, G.2
Pedersen, J.S.3
-
14
-
-
79952901680
-
Enhancer function: New insights into the regulation of tissue-specific gene expression
-
Ong CT, Corces VG. Enhancer function: new insights into the regulation of tissue-specific gene expression. Nat Rev Genet. 2011;12(4):283-93.
-
(2011)
Nat Rev Genet
, vol.12
, Issue.4
, pp. 283-293
-
-
Ong, C.T.1
Corces, V.G.2
-
15
-
-
84865755978
-
The accessible chromatin landscape of the human genome
-
Thurman RE, Rynes E, Humbert R, et al. The accessible chromatin landscape of the human genome. Nature. 2012;489(7414):75-82.
-
(2012)
Nature
, vol.489
, Issue.7414
, pp. 75-82
-
-
Thurman, R.E.1
Rynes, E.2
Humbert, R.3
-
16
-
-
84864627693
-
Personal and population genomics of human regulatory variation
-
Vernot B, Stergachis AB, Maurano MT, et al. Personal and population genomics of human regulatory variation. Genome Res. 2012;22(9):1689-97.
-
(2012)
Genome Res
, vol.22
, Issue.9
, pp. 1689-1697
-
-
Vernot, B.1
Stergachis, A.B.2
Maurano, M.T.3
-
17
-
-
84891808382
-
JASPAR 2014: An extensively expanded and updated open-access database of transcription factor binding profiles
-
Database issue
-
Mathelier A, Zhao X, Zhang AW, et al. JASPAR 2014: an extensively expanded and updated open-access database of transcription factor binding profiles. Nucleic Acids Res. 2014;42(Database issue):D142-7.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. 142-147
-
-
Mathelier, A.1
Zhao, X.2
Zhang, A.W.3
-
18
-
-
3242891274
-
ConSite: Web-based prediction of regulatory elements using cross-species comparison
-
Web Server issue
-
Sandelin A, Wasserman WW, Lenhard B. ConSite: web-based prediction of regulatory elements using cross-species comparison. Nucleic Acids Res. 2004;32(Web Server issue):W249-52.
-
(2004)
Nucleic Acids Res
, vol.32
, pp. 249-252
-
-
Sandelin, A.1
Wasserman, W.W.2
Lenhard, B.3
-
19
-
-
84858779229
-
HaploReg: A resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants
-
Database issue
-
Ward LD, Kellis M. HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res. 2012;40(Database issue):D930-4.
-
(2012)
Nucleic Acids Res
, vol.40
, pp. 930-934
-
-
Ward, L.D.1
Kellis, M.2
-
20
-
-
20844461337
-
LS-SNP: Large-scale annotation of coding non-synonymous SNPs based on multiple information sources
-
Karchin R, Diekhans M, Kelly L, et al. LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources. Bioinformatics. 2005;21(12):2814-20.
-
(2005)
Bioinformatics
, vol.21
, Issue.12
, pp. 2814-2820
-
-
Karchin, R.1
Diekhans, M.2
Kelly, L.3
-
21
-
-
84885303367
-
WS-SNPs&GO: A web server for predicting the deleterious effect of human protein variants using functional annotation
-
Capriotti E, Calabrese R, Fariselli P, Martelli PL, Altman RB, Casadio R. WS-SNPs&GO: a web server for predicting the deleterious effect of human protein variants using functional annotation. BMC Genomics. 2013;14(suppl 3):S6.
-
(2013)
BMC Genomics
, vol.14
, pp. S6
-
-
Capriotti, E.1
Calabrese, R.2
Fariselli, P.3
Martelli, P.L.4
Altman, R.B.5
Casadio, R.6
-
22
-
-
25144496606
-
PMUT: A web-based tool for the annotation of pathological mutations on proteins
-
Ferrer-Costa C, Gelpi JL, Zamakola L, Parraga I, de la Cruz X, Orozco M. PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics. 2005;21(14):3176-8.
-
(2005)
Bioinformatics
, vol.21
, Issue.14
, pp. 3176-3178
-
-
Ferrer-Costa, C.1
Gelpi, J.L.2
Zamakola, L.3
Parraga, I.4
De La Cruz, X.5
Orozco, M.6
-
23
-
-
57249114505
-
SNAP: A web-based tool for identification and annotation of proxy SNPs using HapMap
-
Johnson AD, Handsaker RE, Pulit SL, Nizzari MM, O’Donnell CJ, de Bakker PI. SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics. 2008;24(24):2938-9.
-
(2008)
Bioinformatics
, vol.24
, Issue.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.6
-
24
-
-
84862785201
-
Unsupervised pattern discovery in human chromatin structure through genomic segmentation
-
Hoffman MM, Buske OJ, Wang J, Weng Z, Bilmes JA, Noble WS. Unsupervised pattern discovery in human chromatin structure through genomic segmentation. Nat Methods. 2012;9(5):473-6.
-
(2012)
Nat Methods
, vol.9
, Issue.5
, pp. 473-476
-
-
Hoffman, M.M.1
Buske, O.J.2
Wang, J.3
Weng, Z.4
Bilmes, J.A.5
Noble, W.S.6
-
25
-
-
84857707318
-
ChromHMM: Automating chromatin-state discovery and characterization
-
Ernst J, Kellis M. ChromHMM: automating chromatin-state discovery and characterization. Nat Methods. 2012;9(3):215-6.
-
(2012)
Nat Methods
, vol.9
, Issue.3
, pp. 215-216
-
-
Ernst, J.1
Kellis, M.2
-
26
-
-
84895858942
-
A general framework for estimating the relative pathogenicity of human genetic variants
-
Kircher M, Witten DM, Jain P, O’Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46(3):310-5.
-
(2014)
Nat Genet
, vol.46
, Issue.3
, pp. 310-315
-
-
Kircher, M.1
Witten, D.M.2
Jain, P.3
O’roak, B.J.4
Cooper, G.M.5
Shendure, J.6
-
27
-
-
66149167455
-
ChIP-based methods for the identification of long-range chromatin interactions
-
Fullwood MJ, Ruan Y. ChIP-based methods for the identification of long-range chromatin interactions. J Cell Biochem. 2009;107(1):30-9.
-
(2009)
J Cell Biochem
, vol.107
, Issue.1
, pp. 30-39
-
-
Fullwood, M.J.1
Ruan, Y.2
-
28
-
-
0037083376
-
Capturing chromosome conformation
-
Dekker J, Rippe K, Dekker M, Kleckner N. Capturing chromosome conformation. Science. 2002;295(5558):1306-11.
-
(2002)
Science
, vol.295
, Issue.5558
, pp. 1306-1311
-
-
Dekker, J.1
Rippe, K.2
Dekker, M.3
Kleckner, N.4
-
29
-
-
31344477982
-
The three ‘C’ s of chromosome conformation capture: Controls, controls, controls
-
Dekker J. The three ‘C’ s of chromosome conformation capture: controls, controls, controls. Nat Methods. 2006;3(1):17-21.
-
(2006)
Nat Methods
, vol.3
, Issue.1
, pp. 17-21
-
-
Dekker, J.1
-
30
-
-
33750212321
-
Nuclear organization of active and inactive chromatin domains uncovered by chromosome conformation capture-on-chip (4C)
-
Simonis M, Klous P, Splinter E, et al. Nuclear organization of active and inactive chromatin domains uncovered by chromosome conformation capture-on-chip (4C). Nat Genet. 2006;38(11):1348-54.
-
(2006)
Nat Genet
, vol.38
, Issue.11
, pp. 1348-1354
-
-
Simonis, M.1
Klous, P.2
Splinter, E.3
-
31
-
-
33750203582
-
Circular chromosome conformation capture (4C) uncovers extensive networks of epigenetically regulated intra-and interchromosomal interactions
-
Zhao Z, Tavoosidana G, Sjölinder M, et al. Circular chromosome conformation capture (4C) uncovers extensive networks of epigenetically regulated intra-and interchromosomal interactions. Nat Genet. 2006;38(11):1341-7.
-
(2006)
Nat Genet
, vol.38
, Issue.11
, pp. 1341-1347
-
-
Zhao, Z.1
Tavoosidana, G.2
Sjölinder, M.3
-
32
-
-
33749400168
-
Chromosome conformation capture carbon copy (5C): A massively parallel solution for mapping interactions between genomic elements
-
Dostie J, Richmond TA, Arnaout RA, et al. Chromosome conformation capture carbon copy (5C): a massively parallel solution for mapping interactions between genomic elements. Genome Res. 2006;16(10):1299-309.
-
(2006)
Genome Res
, vol.16
, Issue.10
, pp. 1299-1309
-
-
Dostie, J.1
Richmond, T.A.2
Arnaout, R.A.3
-
33
-
-
84860684566
-
Chromatin interaction analysis with paired-end tag sequencing (ChIA-PET) for mapping chromatin interactions and understanding transcription regulation
-
Goh Y, Fullwood MJ, Poh HM, et al. Chromatin interaction analysis with paired-end tag sequencing (ChIA-PET) for mapping chromatin interactions and understanding transcription regulation. J Vis Exp. 2012;62:ii:3770.
-
(2012)
J Vis Exp
, vol.62
, Issue.2
, pp. 3770
-
-
Goh, Y.1
Fullwood, M.J.2
Poh, H.M.3
-
34
-
-
84865800494
-
The long-range interaction landscape of gene promoters
-
Sanyal A, Lajoie BR, Jain G, Dekker J. The long-range interaction landscape of gene promoters. Nature. 2012;489(7414):109-13.
-
(2012)
Nature
, vol.489
, Issue.7414
, pp. 109-113
-
-
Sanyal, A.1
Lajoie, B.R.2
Jain, G.3
Dekker, J.4
-
35
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
1000 GenomesProject Consortium
-
1000 GenomesProject Consortium, Abecasis GR, Altshuler D, et al. A map of human genome variation from population-scale sequencing. Nature. 2010;467(7319):1061-73.
-
(2010)
Nature
, vol.467
, Issue.7319
, pp. 1061-1073
-
-
Abecasis, G.R.1
Altshuler, D.2
-
36
-
-
13444269543
-
Haploview: Analysis and visualization of LD and haplotype maps
-
Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21(2):263-5.
-
(2005)
Bioinformatics
, vol.21
, Issue.2
, pp. 263-265
-
-
Barrett, J.C.1
Fry, B.2
Maller, J.3
Daly, M.J.4
-
37
-
-
0347755531
-
The UCSC table browser data retrieval tool
-
Database issue
-
Karolchik D, Hinrichs AS, Furey TS, et al. The UCSC table browser data retrieval tool. Nucleic Acids Res. 2004;32(Database issue):D493-6.
-
(2004)
Nucleic Acids Res
, vol.32
, pp. D493-D496
-
-
Karolchik, D.1
Hinrichs, A.S.2
Furey, T.S.3
-
38
-
-
79960405019
-
The variant call format and VCFtools
-
Danecek P, Auton A, Abecasis G, et al. The variant call format and VCFtools. Bioinformatics. 2011;27(15):2156-8.
-
(2011)
Bioinformatics
, vol.27
, Issue.15
, pp. 2156-2158
-
-
Danecek, P.1
Auton, A.2
Abecasis, G.3
-
39
-
-
77956534324
-
ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
-
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38(16):e164.
-
(2010)
Nucleic Acids Res
, vol.38
, Issue.16
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
40
-
-
84857831329
-
AnnTools: A comprehensive and versatile annotation toolkit for genomic variants
-
Makarov V, O’Grady T, Cai G, Lihm J, Buxbaum JD, Yoon S. AnnTools: a comprehensive and versatile annotation toolkit for genomic variants. Bioinformatics. 2012;28(5):724-5.
-
(2012)
Bioinformatics
, vol.28
, Issue.5
, pp. 724-725
-
-
Makarov, V.1
O’grady, T.2
Cai, G.3
Lihm, J.4
Buxbaum, J.D.5
Yoon, S.6
-
41
-
-
78651330430
-
COSMIC: Mining complete cancer genomes in the catalogue of somatic mutations in cancer
-
Database issue
-
Forbes SA, Bindal N, Bamford S, et al. COSMIC: mining complete cancer genomes in the catalogue of somatic mutations in cancer. Nucleic Acids Res. 2011;39(Database issue):D945-50.
-
(2011)
Nucleic Acids Res
, vol.39
, pp. D945-D950
-
-
Forbes, S.A.1
Bindal, N.2
Bamford, S.3
-
42
-
-
84875490185
-
Cancer genome landscapes
-
Vogelstein B, Papadopoulos N, Velculescu VE, Zhou S, Diaz LA Jr., Kinzler KW. Cancer genome landscapes. Science. 2013;339(6127):1546-58.
-
(2013)
Science
, vol.339
, Issue.6127
, pp. 1546-1558
-
-
Vogelstein, B.1
Papadopoulos, N.2
Velculescu, V.E.3
Zhou, S.4
Diaz, L.A.5
Kinzler, K.W.6
-
43
-
-
79953158399
-
Exploring the genomes of cancer cells: Progress and promise
-
Stratton MR. Exploring the genomes of cancer cells: progress and promise. Science. 2011;331(6024):1553-8.
-
(2011)
Science
, vol.331
, Issue.6024
, pp. 1553-1558
-
-
Stratton, M.R.1
-
44
-
-
79957604678
-
Principles for the post-GWAS functional characterization of cancer risk loci
-
Freedman ML, Monteiro AN, Gayther SA, et al. Principles for the post-GWAS functional characterization of cancer risk loci. Nat Genet. 2011;43(6):513-8.
-
(2011)
Nat Genet
, vol.43
, Issue.6
, pp. 513-518
-
-
Freedman, M.L.1
Monteiro, A.N.2
Gayther, S.A.3
-
45
-
-
77953098883
-
8q24 prostate, breast, and colon cancer risk loci show tissue-specific long-range interaction with MYC
-
Ahmadiyeh N, Pomerantz MM, Grisanzio C, et al. 8q24 prostate, breast, and colon cancer risk loci show tissue-specific long-range interaction with MYC. Proc Natl Acad Sci U S A. 2010;107(21):9742-6.
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, Issue.21
, pp. 9742-9746
-
-
Ahmadiyeh, N.1
Pomerantz, M.M.2
Grisanzio, C.3
-
46
-
-
84896443312
-
Identifying driver mutations from sequencing data of heterogeneous tumors in the era of personalized genome sequencing
-
Zhang J, Liu J, Sun J, Chen C, Foltz G, Lin B. Identifying driver mutations from sequencing data of heterogeneous tumors in the era of personalized genome sequencing. Brief Bioinform. 2014;15(2):244-55.
-
(2014)
Brief Bioinform
, vol.15
, Issue.2
, pp. 244-255
-
-
Zhang, J.1
Liu, J.2
Sun, J.3
Chen, C.4
Foltz, G.5
Lin, B.6
-
47
-
-
84869455546
-
A novel missense-mutation-related feature extraction scheme for ‘driver’ mutation identification
-
Tan H, Bao J, Zhou X. A novel missense-mutation-related feature extraction scheme for ‘driver’ mutation identification. Bioinformatics. 2012;28(22):2948-55.
-
(2012)
Bioinformatics
, vol.28
, Issue.22
, pp. 2948-2955
-
-
Tan, H.1
Bao, J.2
Zhou, X.3
-
48
-
-
77957154710
-
Prioritization of driver mutations in pancreatic cancer using cancer-specific high-throughput annotation of somatic mutations (CHASM)
-
Carter H, Samayoa J, Hruban RH, Karchin R. Prioritization of driver mutations in pancreatic cancer using cancer-specific high-throughput annotation of somatic mutations (CHASM). Cancer Biol Ther. 2010;10(6):582-7.
-
(2010)
Cancer Biol Ther
, vol.10
, Issue.6
, pp. 582-587
-
-
Carter, H.1
Samayoa, J.2
Hruban, R.H.3
Karchin, R.4
-
49
-
-
53749105617
-
SNAP predicts effect of mutations on protein function
-
Bromberg Y, Yachdav G, Rost B. SNAP predicts effect of mutations on protein function. Bioinformatics. 2008;24(20):2397-8.
-
(2008)
Bioinformatics
, vol.24
, Issue.20
, pp. 2397-2398
-
-
Bromberg, Y.1
Yachdav, G.2
Rost, B.3
-
50
-
-
84891771466
-
The UCSC genome browser database: 2014 update
-
Database issue
-
Karolchik D, Barber GP, Casper J, et al. The UCSC genome browser database: 2014 update. Nucleic Acids Res. 2014;42(Database issue):D764-70.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. 764-770
-
-
Karolchik, D.1
Barber, G.P.2
Casper, J.3
-
51
-
-
84876552099
-
The UCSC cancer genomics browser: Update 2013
-
Database issue
-
Goldman M, Craft B, Swatloski T, et al. The UCSC cancer genomics browser: update 2013. Nucleic Acids Res. 2013;41(Database issue):D949-54.
-
(2013)
Nucleic Acids Res
, vol.41
, pp. 949-954
-
-
Goldman, M.1
Craft, B.2
Swatloski, T.3
-
52
-
-
84875253066
-
Identification of genetic susceptibility loci for colorectal tumors in a genome-wide meta-analysis
-
Peters U, Jiao S, Schumacher FR, et al. Identification of genetic susceptibility loci for colorectal tumors in a genome-wide meta-analysis. Gastroenterology. 2013;144(4):799-807.e24.
-
(2013)
Gastroenterology
, vol.144
, Issue.4
, pp. 799-807
-
-
Peters, U.1
Jiao, S.2
Schumacher, F.R.3
-
53
-
-
15944413013
-
-
Online, OMIM Web site
-
Johns Hopkins University (Baltimore, MD). McKusick-Nathans Institute of Genetic Medicine. Online Mendelian Inheritance in Man, OMIM Web site: http://omim.org/2014, 2014.
-
(2014)
Mendelian Inheritance in Man
-
-
-
54
-
-
79951841312
-
Replication and functional genomic analyses of the breast cancer susceptibility locus at 6q25.1 generalize its importance in women of Chinese, Japanese, and European ancestry
-
Cai Q, Wen W, Qu S, et al. Replication and functional genomic analyses of the breast cancer susceptibility locus at 6q25.1 generalize its importance in women of Chinese, Japanese, and European ancestry. Cancer Res. 2011;71(4):1344-55.
-
(2011)
Cancer Res
, vol.71
, Issue.4
, pp. 1344-1355
-
-
Cai, Q.1
Wen, W.2
Qu, S.3
-
55
-
-
77954153479
-
Identification of a functional genetic variant at 16q12.1 for breast cancer risk: Results from the Asia breast cancer consortium
-
Long J, Cai Q, Shu XO, et al. Identification of a functional genetic variant at 16q12.1 for breast cancer risk: results from the Asia breast cancer consortium. PLoS Genet. 2010;6(6):e1001002.
-
(2010)
PLoS Genet
, vol.6
, Issue.6
-
-
Long, J.1
Cai, Q.2
Shu, X.O.3
-
56
-
-
68149180901
-
The 8q24 cancer risk variant rs6983267shows long-range interaction with MYC in colorectal cancer
-
Pomerantz MM, Ahmadiyeh N, Jia L, et al. The 8q24 cancer risk variant rs6983267shows long-range interaction with MYC in colorectal cancer. Nat Genet. 2009;41(8):882-4.
-
(2009)
Nat Genet
, vol.41
, Issue.8
, pp. 882-884
-
-
Pomerantz, M.M.1
Ahmadiyeh, N.2
Jia, L.3
-
57
-
-
0042242582
-
ESEfinder: A web resource to identify exonic splicing enhancers
-
Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR. ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res. 2003;31(13):3568-71.
-
(2003)
Nucleic Acids Res
, vol.31
, Issue.13
, pp. 3568-3571
-
-
Cartegni, L.1
Wang, J.2
Zhu, Z.3
Zhang, M.Q.4
Krainer, A.R.5
-
58
-
-
8144225362
-
Variation in sequence and organization of splicing regulatory elements in vertebrate genes
-
Yeo G, Hoon S, Venkatesh B, Burge CB. Variation in sequence and organization of splicing regulatory elements in vertebrate genes. Proc Natl Acad Sci U S A. 2004;101(44):15700-5.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, Issue.44
, pp. 15700-15705
-
-
Yeo, G.1
Hoon, S.2
Venkatesh, B.3
Burge, C.B.4
-
59
-
-
0037047644
-
Predictive identification of exonic splicing enhancers in human genes
-
Fairbrother WG, Yeh RF, Sharp PA, Burge CB. Predictive identification of exonic splicing enhancers in human genes. Science. 2002;297(5583):1007-13.
-
(2002)
Science
, vol.297
, Issue.5583
, pp. 1007-1013
-
-
Fairbrother, W.G.1
Yeh, R.F.2
Sharp, P.A.3
Burge, C.B.4
-
60
-
-
23344437521
-
Exon inclusion is dependent on predictable exonic splicing enhancers
-
Zhang XH, Kangsamaksin T, Chao MS, Banerjee JK, Chasin LA. Exon inclusion is dependent on predictable exonic splicing enhancers. Mol Cell Biol. 2005;25(16):7323-32.
-
(2005)
Mol Cell Biol
, vol.25
, Issue.16
, pp. 7323-7332
-
-
Zhang, X.H.1
Kangsamaksin, T.2
Chao, M.S.3
Banerjee, J.K.4
Chasin, L.A.5
-
62
-
-
79959851441
-
Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer
-
Tomlinson IP, Carvajal-Carmona LG, Dobbins SE, et al. Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer. PLoS Genet. 2011;7(6):e1002105.
-
(2011)
PLoS Genet
, vol.7
, Issue.6
-
-
Tomlinson, I.P.1
Carvajal-Carmona, L.G.2
Dobbins, S.E.3
-
63
-
-
34247548755
-
Genome-wide association study of prostate cancer identifies a second risk locus at 8q24
-
Yeager M, Orr N, Hayes RB, et al. Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Nat Genet. 2007;39(5):645-9.
-
(2007)
Nat Genet
, vol.39
, Issue.5
, pp. 645-649
-
-
Yeager, M.1
Orr, N.2
Hayes, R.B.3
-
64
-
-
79955860324
-
Common variant in 6q26-q27 is associated with distal colon cancer in an ASIAn population
-
Cui R, Okada Y, Jang SG, et al. Common variant in 6q26-q27 is associated with distal colon cancer in an ASIAn population. Gut. 2011;60(6):799-805.
-
(2011)
Gut
, vol.60
, Issue.6
, pp. 799-805
-
-
Cui, R.1
Okada, Y.2
Jang, S.G.3
-
65
-
-
39749118602
-
Multiple loci identified in a genome-wide association study of prostate cancer
-
Thomas G, Jacobs KB, Yeager M, et al. Multiple loci identified in a genome-wide association study of prostate cancer. Nat Genet. 2008;40(3):310-5.
-
(2008)
Nat Genet
, vol.40
, Issue.3
, pp. 310-315
-
-
Thomas, G.1
Jacobs, K.B.2
Yeager, M.3
-
66
-
-
39749129053
-
Multiple newly identified loci associated with prostate cancer susceptibility
-
Eeles RA, Kote-Jarai Z, Giles GG, et al. Multiple newly identified loci associated with prostate cancer susceptibility. Nat Genet. 2008;40(3):316-21.
-
(2008)
Nat Genet
, vol.40
, Issue.3
, pp. 316-321
-
-
Eeles, R.A.1
Kote-Jarai, Z.2
Giles, G.G.3
-
67
-
-
80052716147
-
Genome-wide association study identifies new prostate cancer susceptibility loci
-
Schumacher FR, Berndt SI, Siddiq A, et al. Genome-wide association study identifies new prostate cancer susceptibility loci. Hum Mol Genet. 2011;20(19):3867-75.
-
(2011)
Hum Mol Genet
, vol.20
, Issue.19
, pp. 3867-3875
-
-
Schumacher, F.R.1
Berndt, S.I.2
Siddiq, A.3
-
68
-
-
30944435031
-
Telomere length of normal leukocytes is affected by a functional polymorphism of hTERT
-
Matsubara Y, Murata M, Yoshida T, et al. Telomere length of normal leukocytes is affected by a functional polymorphism of hTERT. Biochem Biophys Res Commun. 2006;341(1):128-31.
-
(2006)
Biochem Biophys Res Commun
, vol.341
, Issue.1
, pp. 128-131
-
-
Matsubara, Y.1
Murata, M.2
Yoshida, T.3
-
69
-
-
84872145398
-
TERT polymorphisms modify the risk of acute lymphoblastic leukemia in chinese children
-
Sheng X, Tong N, Tao G, et al. TERT polymorphisms modify the risk of acute lymphoblastic leukemia in chinese children. Carcinogenesis. 2013;34(1):228-35.
-
(2013)
Carcinogenesis
, vol.34
, Issue.1
, pp. 228-235
-
-
Sheng, X.1
Tong, N.2
Tao, G.3
-
70
-
-
24344500097
-
Strong bias in the location of functional promoter polymorphisms
-
Buckland PR, Hoogendoorn B, Coleman SL, Guy CA, Smith SK, O’Donovan MC. Strong bias in the location of functional promoter polymorphisms. Hum Mutat. 2005;26(3):214-23.
-
(2005)
Hum Mutat
, vol.26
, Issue.3
, pp. 214-223
-
-
Buckland, P.R.1
Hoogendoorn, B.2
Coleman, S.L.3
Guy, C.A.4
Smith, S.K.5
O’donovan, M.C.6
-
71
-
-
63149133163
-
Fine mapping association study and functional analysis implicate a SNP in MSMB at 10q11 as a causal variant for prostate cancer risk
-
Chang BL, Cramer SD, Wiklund F, et al. Fine mapping association study and functional analysis implicate a SNP in MSMB at 10q11 as a causal variant for prostate cancer risk. Hum Mol Genet. 2009;18(7):1368-75.
-
(2009)
Hum Mol Genet
, vol.18
, Issue.7
, pp. 1368-1375
-
-
Chang, B.L.1
Cramer, S.D.2
Wiklund, F.3
-
72
-
-
66049160161
-
Fine mapping and functional analysis of a common variant in MSMB on chromosome 10q11.2 associated with prostate cancer susceptibility
-
Lou H, Yeager M, Li H, et al. Fine mapping and functional analysis of a common variant in MSMB on chromosome 10q11.2 associated with prostate cancer susceptibility. Proc Natl Acad Sci U S A. 2009;106(19):7933-8.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, Issue.19
, pp. 7933-7938
-
-
Lou, H.1
Yeager, M.2
Li, H.3
-
73
-
-
84869056823
-
Why transcription factor binding sites are ten nucleotides long
-
Stewart AJ, Hannenhalli S, Plotkin JB. Why transcription factor binding sites are ten nucleotides long. Genetics. 2012;192(3):973-85.
-
(2012)
Genetics
, vol.192
, Issue.3
, pp. 973-985
-
-
Stewart, A.J.1
Hannenhalli, S.2
Plotkin, J.B.3
-
74
-
-
0043122919
-
SIFT: Predicting amino acid changes that affect protein function
-
Ng PC, Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003;31(13):3812-4.
-
(2003)
Nucleic Acids Res
, vol.31
, Issue.13
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
75
-
-
84862506964
-
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of drosophila melanogaster strain w1118; iso-2; iso-3
-
Cingolani P, Platts A, Wang Le L, et al. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin). 2012;6(2):80-92.
-
(2012)
Fly (Austin)
, vol.6
, Issue.2
, pp. 80-92
-
-
Cingolani, P.1
Platts, A.2
Wang Le, L.3
-
76
-
-
23144436398
-
The FoldX web server: An online force field
-
Web Server issue
-
Schymkowitz J, Borg J, Stricher F, Nys R, Rousseau F, Serrano L. The FoldX web server: an online force field. Nucleic Acids Res. 2005;33(Web Server issue):W382-8.
-
(2005)
Nucleic Acids Res
, vol.33
, pp. 382-388
-
-
Schymkowitz, J.1
Borg, J.2
Stricher, F.3
Nys, R.4
Rousseau, F.5
Serrano, L.6
-
77
-
-
84875945705
-
ENCODE data in the UCSC genome browser: Year 5 update
-
Database issue
-
Rosenbloom KR, Sloan CA, Malladi VS, et al. ENCODE data in the UCSC genome browser: year 5 update. Nucleic Acids Res. 2013;41(Database issue):D56-63.
-
(2013)
Nucleic Acids Res
, vol.41
, pp. D56-D63
-
-
Rosenbloom, K.R.1
Sloan, C.A.2
Malladi, V.S.3
-
78
-
-
33846074755
-
RNAdb 2.0--an expanded database of mammalian non-coding RNAs
-
Database issue
-
Pang KC, Stephen S, Dinger ME, Engstrom PG, Lenhard B, Mattick JS. RNAdb 2.0--an expanded database of mammalian non-coding RNAs. Nucleic Acids Res. 2007;35(Database issue):D178-82.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. D178-D182
-
-
Pang, K.C.1
Stephen, S.2
Dinger, M.E.3
Engstrom, P.G.4
Lenhard, B.5
Mattick, J.S.6
-
79
-
-
78651293534
-
Griffiths-Jones S. miRBase: Integrating microRNA annotation and deep-sequencing data
-
Database issue
-
Kozomara A, Griffiths-Jones S. miRBase: integrating microRNA annotation and deep-sequencing data. Nucleic Acids Res. 2011;39(Database issue):D152-7.
-
(2011)
Nucleic Acids Res
, vol.39
, pp. 152-157
-
-
Kozomara, A.1
-
80
-
-
60149095444
-
Most mammalian mRNAs are conserved targets of microRNAs
-
Friedman RC, Farh KK, Burge CB, Bartel DP. Most mammalian mRNAs are conserved targets of microRNAs. Genome Res. 2009;19(1):92-105.
-
(2009)
Genome Res
, vol.19
, Issue.1
, pp. 92-105
-
-
Friedman, R.C.1
Farh, K.K.2
Burge, C.B.3
Bartel, D.P.4
-
82
-
-
84878682420
-
The genotype-tissue expression (GTEx) project
-
GTEx Consortium. The genotype-tissue expression (GTEx) project. Nat Genet. 2013;45(6):580-5.
-
(2013)
Nat Genet
, vol.45
, Issue.6
, pp. 580-585
-
-
-
83
-
-
0030034795
-
A hidden Markov model approach to variation among sites in rate of evolution
-
Felsenstein J, Churchill GA. A hidden Markov model approach to variation among sites in rate of evolution. Mol Biol Evol. 1996;13(1):93-104.
-
(1996)
Mol Biol Evol
, vol.13
, Issue.1
, pp. 93-104
-
-
Felsenstein, J.1
Churchill, G.A.2
-
84
-
-
68149170044
-
The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling
-
Tuupanen S, Turunen M, Lehtonen R, et al. The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nat Genet. 2009;41(8):885-90.
-
(2009)
Nat Genet
, vol.41
, Issue.8
, pp. 885-890
-
-
Tuupanen, S.1
Turunen, M.2
Lehtonen, R.3
-
85
-
-
78049415226
-
Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H
-
Pittman AM, Naranjo S, Jalava SE, et al. Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H. PLoS Genet. 2010;6(9):e1001126.
-
(2010)
PLoS Genet
, vol.6
, Issue.9
-
-
Pittman, A.M.1
Naranjo, S.2
Jalava, S.E.3
-
86
-
-
81855226435
-
Genome-wide association study identifies breast cancer risk variant at 10q21.2: Results from the Asia breast cancer consortium
-
Cai Q, Long J, Lu W, et al. Genome-wide association study identifies breast cancer risk variant at 10q21.2: results from the Asia breast cancer consortium. Hum Mol Genet. 2011;20(24):4991-9.
-
(2011)
Hum Mol Genet
, vol.20
, Issue.24
, pp. 4991-4999
-
-
Cai, Q.1
Long, J.2
Lu, W.3
-
87
-
-
80052846746
-
Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers
-
Beesley J, Pickett HA, Johnatty SE, et al. Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers. PLoS One. 2011;6(9):e24987.
-
(2011)
PLoS One
, vol.6
, Issue.9
-
-
Beesley, J.1
Pickett, H.A.2
Johnatty, S.E.3
-
88
-
-
77957878164
-
A functional variant in NKX3.1 associated with prostate cancer susceptibility down-regulates NKX3.1 expression
-
Akamatsu S, Takata R, Ashikawa K, et al. A functional variant in NKX3.1 associated with prostate cancer susceptibility down-regulates NKX3.1 expression. Hum Mol Genet. 2010;19(21):4265-72.
-
(2010)
Hum Mol Genet
, vol.19
, Issue.21
, pp. 4265-4272
-
-
Akamatsu, S.1
Takata, R.2
Ashikawa, K.3
-
89
-
-
84886642986
-
Identification of functional nucleotide and haplotype variants in the promoter of the CEBPE gene
-
Ryoo H, Kong M, Kim Y, Lee C. Identification of functional nucleotide and haplotype variants in the promoter of the CEBPE gene. J Hum Genet. 2013;58(9):600-3.
-
(2013)
J Hum Genet
, vol.58
, Issue.9
, pp. 600-603
-
-
Ryoo, H.1
Kong, M.2
Kim, Y.3
Lee, C.4
-
90
-
-
84867410664
-
Genetic polymorphisms in the osteopontin promoter increases the risk of distance metastasis and death in Chinese patients with gastric cancer
-
Zhao F, Chen X, Meng T, Hao B, Zhang Z, Zhang G. Genetic polymorphisms in the osteopontin promoter increases the risk of distance metastasis and death in Chinese patients with gastric cancer. BMC Cancer. 2012;12:477.
-
(2012)
BMC Cancer
, vol.12
, pp. 477
-
-
Zhao, F.1
Chen, X.2
Meng, T.3
Hao, B.4
Zhang, Z.5
Zhang, G.6
-
91
-
-
58849142631
-
The functional-443T/C osteopontin promoter polymorphism influences osteopontin gene expression in melanoma cells via binding of c-Myb transcription factor
-
Schultz J, Lorenz P, Ibrahim SM, Kundt G, Gross G, Kunz M. The functional-443T/C osteopontin promoter polymorphism influences osteopontin gene expression in melanoma cells via binding of c-Myb transcription factor. Mol Carcinog. 2009;48(1):14-23.
-
(2009)
Mol Carcinog
, vol.48
, Issue.1
, pp. 14-23
-
-
Schultz, J.1
Lorenz, P.2
Ibrahim, S.M.3
Kundt, G.4
Gross, G.5
Kunz, M.6
-
92
-
-
84885651314
-
A polymorphic p53 response element in KIT ligand influences cancer risk and has undergone natural selection
-
Zeron-Medina J, Wang X, Repapi E, et al. A polymorphic p53 response element in KIT ligand influences cancer risk and has undergone natural selection. Cell. 2013;155(2):410-22.
-
(2013)
Cell
, vol.155
, Issue.2
, pp. 410-422
-
-
Zeron-Medina, J.1
Wang, X.2
Repapi, E.3
-
93
-
-
84861862859
-
The polymorphism rs944289 predisposes to papillary thyroid carcinoma through a large intergenic noncoding RNA gene of tumor suppressor type
-
Jendrzejewski J, He H, Radomska HS, et al. The polymorphism rs944289 predisposes to papillary thyroid carcinoma through a large intergenic noncoding RNA gene of tumor suppressor type. Proc Natl Acad Sci U S A. 2012;109(22):8646-51.
-
(2012)
Proc Natl Acad Sci U S A
, vol.109
, Issue.22
, pp. 8646-8651
-
-
Jendrzejewski, J.1
He, H.2
Radomska, H.S.3
-
94
-
-
84864624041
-
Integrative functional genomics identifies an enhancer looping to the SOX9 gene disrupted by the 17q24.3 prostate cancer risk locus
-
Zhang X, Cowper-Sal lari R, Bailey SD, Moore JH, Lupien M. Integrative functional genomics identifies an enhancer looping to the SOX9 gene disrupted by the 17q24.3 prostate cancer risk locus. Genome Res. 2012;22(8):1437-46.
-
(2012)
Genome Res
, vol.22
, Issue.8
, pp. 1437-1446
-
-
Zhang, X.1
Cowper-Sal Lari, R.2
Bailey, S.D.3
Moore, J.H.4
Lupien, M.5
-
95
-
-
79957905172
-
LIN28B polymorphisms influence susceptibility to epithelial ovarian cancer
-
Permuth-Wey J, Kim D, Tsai YY, et al. LIN28B polymorphisms influence susceptibility to epithelial ovarian cancer. Cancer Res. 2011;71(11):3896-903.
-
(2011)
Cancer Res
, vol.71
, Issue.11
, pp. 3896-3903
-
-
Permuth-Wey, J.1
Kim, D.2
Tsai, Y.Y.3
-
96
-
-
84897103859
-
The has-miR-526b binding-site rs8506G.a polymorphism in the lincRNA-NR_024015 exon identified by GWASs predispose to non-cardia gastric cancer risk
-
Fan QH, Yu R, Huang WX, Cui XX, Luo BH, Zhang LY. The has-miR-526b binding-site rs8506G.a polymorphism in the lincRNA-NR_024015 exon identified by GWASs predispose to non-cardia gastric cancer risk. PLoS One. 2014;9(3):e90008.
-
(2014)
PLoS One
, vol.9
, Issue.3
-
-
Fan, Q.H.1
Yu, R.2
Huang, W.X.3
Cui, X.X.4
Luo, B.H.5
Zhang, L.Y.6
|