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Volumn 44, Issue D1, 2016, Pages D869-D876

GWASdb v2: An update database for human genetic variants identified by genome-wide association studies

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMATIN IMMUNOPRECIPITATION; COMPUTER INTERFACE; COMPUTER PREDICTION; DISEASE ONTOLOGY; EFFECT SIZE; GENETIC DATABASE; GENETIC TRAIT; GENETIC VARIABILITY; GENOME WIDE ASSOCIATION STUDY DABATASE; GENOME-WIDE ASSOCIATION STUDY; HAPLOTYPE; HUMAN; INFORMATION SERVICE; INTERNET; PHARMACOGENETICS; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; SAMPLE SIZE; SINGLE NUCLEOTIDE POLYMORPHISM; BIOLOGICAL ONTOLOGY; DISEASES; GENE; GENETICS; MOLECULAR GENETICS;

EID: 84976871516     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gkv1317     Document Type: Article
Times cited : (152)

References (61)
  • 2
    • 79951521421 scopus 로고    scopus 로고
    • Progress and promise of genome-wide association studies for human complex trait genetics
    • Stranger, B. E., Stahl, E. A. and Raj, T. (2011) Progress and promise of genome-wide association studies for human complex trait genetics. Genetics, 187, 367-383.
    • (2011) Genetics , vol.187 , pp. 367-383
    • Stranger, B.E.1    Stahl, E.A.2    Raj, T.3
  • 4
    • 84943805735 scopus 로고    scopus 로고
    • Strategies for fine-mapping complex traits
    • Spain, S. L. and Barrett, J. C. (2015) Strategies for fine-mapping complex traits. Hum. Mol. Genet., 24, R111-R119.
    • (2015) Hum. Mol. Genet. , vol.24 , pp. R111-R119
    • Spain, S.L.1    Barrett, J.C.2
  • 9
    • 84946081339 scopus 로고    scopus 로고
    • OMIM.org: Online Mendelian Inheritance in Man (OMIM (R)), an online catalog of human genes and genetic disorders
    • Amberger, J. S., Bocchini, C. A., Schiettecatte, F., Scott, A. F. and Hamosh, A. (2015) OMIM.org: Online Mendelian Inheritance in Man (OMIM (R)), an online catalog of human genes and genetic disorders. Nucleic Acids Res., 43, D789-D798.
    • (2015) Nucleic Acids Res. , vol.43 , pp. D789-D798
    • Amberger, J.S.1    Bocchini, C.A.2    Schiettecatte, F.3    Scott, A.F.4    Hamosh, A.5
  • 12
    • 84890802026 scopus 로고    scopus 로고
    • Phenotype-Genotype Integrator (PheGenI): Synthesizing genome-wide association study (GWAS) data with existing genomic resources
    • Ramos, E. M., Hoffman, D., Junkins, H. A., Maglott, D., Phan, L., Sherry, S. T., Feolo, M. and Hindorff, L. A. (2014) Phenotype-Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources. Eur. J. Hum. Genet.: EJHG, 22, 144-147.
    • (2014) Eur. J. Hum. Genet.: EJHG , vol.22 , pp. 144-147
    • Ramos, E.M.1    Hoffman, D.2    Junkins, H.A.3    Maglott, D.4    Phan, L.5    Sherry, S.T.6    Feolo, M.7    Hindorff, L.A.8
  • 13
    • 84902316955 scopus 로고    scopus 로고
    • GWAS Central: A comprehensive resource for the comparison and interrogation of genome-wide association studies
    • Beck, T., Hastings, R. K., Gollapudi, S., Free, R. C. and Brookes, A. J. (2014) GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies. Eur. J. Hum. Genet.: EJHG, 22, 949-952.
    • (2014) Eur. J. Hum. Genet.: EJHG , vol.22 , pp. 949-952
    • Beck, T.1    Hastings, R.K.2    Gollapudi, S.3    Free, R.C.4    Brookes, A.J.5
  • 14
    • 84861063896 scopus 로고    scopus 로고
    • SNPedia: A wiki supporting personal genome annotation, interpretation and analysis
    • Cariaso, M. and Lennon, G. (2012) SNPedia: a wiki supporting personal genome annotation, interpretation and analysis. Nucleic Acids Res. 40, D1308-D1312.
    • (2012) Nucleic Acids Res , vol.40 , pp. D1308-D1312
    • Cariaso, M.1    Lennon, G.2
  • 16
    • 84865790047 scopus 로고    scopus 로고
    • An integrated encyclopedia of DNA elements in the human genome
    • Consortium, E. P. (2012) An integrated encyclopedia of DNA elements in the human genome. Nature, 489, 57-74.
    • (2012) Nature , vol.489 , pp. 57-74
    • Consortium, E.P.1
  • 18
    • 60749104999 scopus 로고    scopus 로고
    • Next generation tools for the annotation of human SNPs
    • Karchin, R. (2009) Next generation tools for the annotation of human SNPs. Brief. Bioinformatics, 10, 35-52.
    • (2009) Brief. Bioinformatics , vol.10 , pp. 35-52
    • Karchin, R.1
  • 19
    • 84867042205 scopus 로고    scopus 로고
    • Genetic variant representation, annotation and prioritization in the post-GWAS era
    • Li, M. J., Sham, P. C. and Wang, J. (2012) Genetic variant representation, annotation and prioritization in the post-GWAS era. Cell Res., 22, 1505-1508.
    • (2012) Cell Res. , vol.22 , pp. 1505-1508
    • Li, M.J.1    Sham, P.C.2    Wang, J.3
  • 22
    • 0033927616 scopus 로고    scopus 로고
    • Medical Subject Headings (MeSH)
    • Lipscomb, C. E. (2000) Medical Subject Headings (MeSH). Bull. Med. Library Assoc., 88, 265-266.
    • (2000) Bull. Med. Library Assoc. , vol.88 , pp. 265-266
    • Lipscomb, C.E.1
  • 25
    • 84941103725 scopus 로고    scopus 로고
    • Disease Ontology 2015 update: An expanded and updated database of human diseases for linking biomedical knowledge through disease data
    • Kibbe, W. A., Arze, C., Felix, V., Mitraka, E., Bolton, E., Fu, G., Mungall, C. J., Binder, J. X., Malone, J., Vasant, D. et al. (2015) Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data. Nucleic Acids Res., 43, D1071-D1078.
    • (2015) Nucleic Acids Res. , vol.43 , pp. D1071-D1078
    • Kibbe, W.A.1    Arze, C.2    Felix, V.3    Mitraka, E.4    Bolton, E.5    Fu, G.6    Mungall, C.J.7    Binder, J.X.8    Malone, J.9    Vasant, D.10
  • 26
    • 66349132579 scopus 로고    scopus 로고
    • From disease ontology to disease-ontology lite: Statistical methods to adapt a general-purpose ontology for the test of gene-ontology associations
    • Du, P., Feng, G., Flatow, J., Song, J., Holko, M., Kibbe, W. A. and Lin, S. M. (2009) From disease ontology to disease-ontology lite: statistical methods to adapt a general-purpose ontology for the test of gene-ontology associations. Bioinformatics, 25, i63-i68.
    • (2009) Bioinformatics , vol.25 , pp. i63-i68
    • Du, P.1    Feng, G.2    Flatow, J.3    Song, J.4    Holko, M.5    Kibbe, W.A.6    Lin, S.M.7
  • 27
    • 84926147304 scopus 로고    scopus 로고
    • Selecting causal genes from genome-wide association studies via functionally coherent subnetworks
    • Tasan, M., Musso, G., Hao, T., Vidal, M., MacRae, C. A. and Roth, F. P. (2015) Selecting causal genes from genome-wide association studies via functionally coherent subnetworks. Nat. Methods, 12, 154-159.
    • (2015) Nat. Methods , vol.12 , pp. 154-159
    • Tasan, M.1    Musso, G.2    Hao, T.3    Vidal, M.4    MacRae, C.A.5    Roth, F.P.6
  • 30
    • 84883583576 scopus 로고    scopus 로고
    • GWAS3D: Detecting human regulatory variants by integrative analysis of genome-wide associations, chromosome interactions and histone modifications
    • Li, M. J., Wang, L. Y., Xia, Z., Sham, P. C. and Wang, J. (2013) GWAS3D: Detecting human regulatory variants by integrative analysis of genome-wide associations, chromosome interactions and histone modifications. Nucleic Acids Res., 41, W150-W158.
    • (2013) Nucleic Acids Res. , vol.41 , pp. W150-W158
    • Li, M.J.1    Wang, L.Y.2    Xia, Z.3    Sham, P.C.4    Wang, J.5
  • 31
    • 84891770518 scopus 로고    scopus 로고
    • PolymiRTS Database 3.0: Linking polymorphisms in microRNAs and their target sites with human diseases and biological pathways
    • Bhattacharya, A., Ziebarth, J. D. and Cui, Y. (2014) PolymiRTS Database 3.0: linking polymorphisms in microRNAs and their target sites with human diseases and biological pathways. Nucleic Acids Res. 42, D86-D91.
    • (2014) Nucleic Acids Res , vol.42 , pp. D86-D91
    • Bhattacharya, A.1    Ziebarth, J.D.2    Cui, Y.3
  • 32
    • 77949480756 scopus 로고    scopus 로고
    • Genomic features defining exonic variants that modulate splicing
    • Woolfe, A., Mullikin, J. C. and Elnitski, L. (2010) Genomic features defining exonic variants that modulate splicing. Genome Biol, 11, R20.
    • (2010) Genome Biol , vol.11 , pp. R20
    • Woolfe, A.1    Mullikin, J.C.2    Elnitski, L.3
  • 34
    • 84881613239 scopus 로고    scopus 로고
    • DbNSFP v2.0: A database of human non-synonymous SNVs and their functional predictions and annotations
    • Liu, X., Jian, X. and Boerwinkle, E. (2013) dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations. Hum. Mutat., 34, E2393-E2402.
    • (2013) Hum. Mutat. , vol.34 , pp. E2393-E2402
    • Liu, X.1    Jian, X.2    Boerwinkle, E.3
  • 35
    • 84891775890 scopus 로고    scopus 로고
    • DbPSHP: A database of recent positive selection across human populations
    • Li, M. J., Wang, L. Y., Xia, Z., Wong, M. P., Sham, P. C. and Wang, J. (2014) dbPSHP: a database of recent positive selection across human populations. Nucleic Acids Res., 42, D910-D916.
    • (2014) Nucleic Acids Res. , vol.42 , pp. D910-D916
    • Li, M.J.1    Wang, L.Y.2    Xia, Z.3    Wong, M.P.4    Sham, P.C.5    Wang, J.6
  • 36
    • 74949092081 scopus 로고    scopus 로고
    • Detection of nonneutral substitution rates on mammalian phylogenies
    • Pollard, K. S., Hubisz, M. J., Rosenbloom, K. R. and Siepel, A. (2010) Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res., 20, 110-121.
    • (2010) Genome Res. , vol.20 , pp. 110-121
    • Pollard, K.S.1    Hubisz, M.J.2    Rosenbloom, K.R.3    Siepel, A.4
  • 37
    • 78651237647 scopus 로고    scopus 로고
    • Identifying a high fraction of the human genome to be under selective constraint using GERP++
    • Davydov, E. V., Goode, D. L., Sirota, M., Cooper, G. M., Sidow, A. and Batzoglou, S. (2010) Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput. Biol., 6, e1001025.
    • (2010) PLoS Comput. Biol. , vol.6 , pp. e1001025
    • Davydov, E.V.1    Goode, D.L.2    Sirota, M.3    Cooper, G.M.4    Sidow, A.5    Batzoglou, S.6
  • 41
    • 79951993896 scopus 로고    scopus 로고
    • Tabix: Fast retrieval of sequence features from generic TAB-delimited files
    • Li, H. (2011) Tabix: fast retrieval of sequence features from generic TAB-delimited files. Bioinformatics, 27, 718-719.
    • (2011) Bioinformatics , vol.27 , pp. 718-719
    • Li, H.1
  • 44
    • 84865777825 scopus 로고    scopus 로고
    • Linking disease associations with regulatory information in the human genome
    • Schaub, M. A., Boyle, A. P., Kundaje, A., Batzoglou, S. and Snyder, M. (2012) Linking disease associations with regulatory information in the human genome. Genome Res., 22, 1748-1759.
    • (2012) Genome Res. , vol.22 , pp. 1748-1759
    • Schaub, M.A.1    Boyle, A.P.2    Kundaje, A.3    Batzoglou, S.4    Snyder, M.5
  • 45
    • 77951439152 scopus 로고    scopus 로고
    • Trait-associated SNPs are more likely to be eQTLs: Annotation to enhance discovery from GWAS
    • Nicolae, D. L., Gamazon, E., Zhang, W., Duan, S., Dolan, M. E. and Cox, N. J. (2010) Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genet., 6, e1000888.
    • (2010) PLoS Genet. , vol.6 , pp. e1000888
    • Nicolae, D.L.1    Gamazon, E.2    Zhang, W.3    Duan, S.4    Dolan, M.E.5    Cox, N.J.6
  • 49
    • 84858779229 scopus 로고    scopus 로고
    • HaploReg: A resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants
    • Ward, L. D. and Kellis, M. (2012) HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res., 40, D930-D934.
    • (2012) Nucleic Acids Res. , vol.40 , pp. D930-D934
    • Ward, L.D.1    Kellis, M.2
  • 50
    • 84891751965 scopus 로고    scopus 로고
    • RSNPBase: A database for curated regulatory SNPs
    • Guo, L., Du, Y., Chang, S., Zhang, K. and Wang, J. (2014) rSNPBase: a database for curated regulatory SNPs. Nucleic Acids Res., 42, D1033-D1039.
    • (2014) Nucleic Acids Res. , vol.42 , pp. D1033-D1039
    • Guo, L.1    Du, Y.2    Chang, S.3    Zhang, K.4    Wang, J.5
  • 52
    • 84893252645 scopus 로고    scopus 로고
    • The promise of whole-exome sequencing in medical genetics
    • Rabbani, B., Tekin, M. and Mahdieh, N. (2014) The promise of whole-exome sequencing in medical genetics. J. Hum. Genet., 59, 5-15.
    • (2014) J. Hum. Genet. , vol.59 , pp. 5-15
    • Rabbani, B.1    Tekin, M.2    Mahdieh, N.3
  • 54
    • 84884623924 scopus 로고    scopus 로고
    • Re-ranking sequencing variants in the post-GWAS era for accurate causal variant identification
    • Faye, L. L., Machiela, M. J., Kraft, P., Bull, S. B. and Sun, L. (2013) Re-ranking sequencing variants in the post-GWAS era for accurate causal variant identification. PLoS Genet., 9, e1003609.
    • (2013) PLoS Genet. , vol.9 , pp. e1003609
    • Faye, L.L.1    Machiela, M.J.2    Kraft, P.3    Bull, S.B.4    Sun, L.5
  • 56
    • 77955405475 scopus 로고    scopus 로고
    • Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
    • McLaren, W., Pritchard, B., Rios, D., Chen, Y., Flicek, P. and Cunningham, F. (2010) Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics, 26, 2069-2070.
    • (2010) Bioinformatics , vol.26 , pp. 2069-2070
    • McLaren, W.1    Pritchard, B.2    Rios, D.3    Chen, Y.4    Flicek, P.5    Cunningham, F.6
  • 57
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • Kircher, M., Witten, D. M., Jain, P., O'Roak, B. J., Cooper, G. M. and Shendure, J. (2014) A general framework for estimating the relative pathogenicity of human genetic variants. Nat. Genet., 46, 310-315.
    • (2014) Nat. Genet. , vol.46 , 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
  • 58
    • 84929308758 scopus 로고    scopus 로고
    • Current trend of annotating single nucleotide variation in humans-A case study on SNVrap
    • Li, M. J. and Wang, J. (2015) Current trend of annotating single nucleotide variation in humans-A case study on SNVrap. Methods, 79-80, 32-40.
    • (2015) Methods , vol.79-80 , pp. 32-40
    • Li, M.J.1    Wang, J.2
  • 59
    • 84898723939 scopus 로고    scopus 로고
    • Joint analysis of functional genomic data and genome-wide association studies of 18 human traits
    • Pickrell, J. K. (2014) Joint analysis of functional genomic data and genome-wide association studies of 18 human traits. Am. J. Hum. Genet., 94, 559-573.
    • (2014) Am. J. Hum. Genet. , vol.94 , pp. 559-573
    • Pickrell, J.K.1
  • 60
    • 84895510920 scopus 로고    scopus 로고
    • Functional annotation of noncoding sequence variants
    • Ritchie, G. R., Dunham, I., Zeggini, E. and Flicek, P. (2014) Functional annotation of noncoding sequence variants. Nat. Methods, 11, 294-296.
    • (2014) Nat. Methods , vol.11 , pp. 294-296
    • Ritchie, G.R.1    Dunham, I.2    Zeggini, E.3    Flicek, P.4
  • 61
    • 84921837396 scopus 로고    scopus 로고
    • Exploring the function of genetic variants in the non-coding genomic regions: Approaches for identifying human regulatory variants affecting gene expression
    • Li, M. J., Yan, B., Sham, P. C. and Wang, J. (2014) Exploring the function of genetic variants in the non-coding genomic regions: approaches for identifying human regulatory variants affecting gene expression. Brief. Bioinformatics, 16, 393-412.
    • (2014) Brief. Bioinformatics , vol.16 , pp. 393-412
    • Li, M.J.1    Yan, B.2    Sham, P.C.3    Wang, J.4


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