publication . Other literature type . Article . 2014

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations.

Welter, Danielle; MacArthur, Jacqueline; Morales, Joannella; Burdett, Tony; Hall, Peggy; Junkins, Heather; Klemm, Alan; Flicek, Paul; Manolio, Teri; Hindorff, Lucia; ...
  • Published: 01 Jan 2014
  • Publisher: Oxford University Press (OUP)
Abstract
The National Human Genome Research Institute (NHGRI) Catalog of Published Genome-Wide Association Studies (GWAS) Catalog provides a publicly available manually curated collection of published GWAS assaying at least 100 000 single-nucleotide polymorphisms (SNPs) and all SNP-trait associations with P <1 × 10−5. The Catalog includes 1751 curated publications of 11 912 SNPs. In addition to the SNP-trait association data, the Catalog also publishes a quarterly diagram of all SNP-trait associations mapped to the SNPs’ chromosomal locations. The Catalog can be accessed via a tabular web interface, via a dynamic visualization on the human karyotype, as a downloadable ta...
Subjects
Medical Subject Headings: natural sciencesinformation sciencefungihealth care economics and organizations
free text keywords: VI. Genomic variation, diseases and drugs, Genetics, Genome-wide association study, Trait, Genome human, Biology, Gene ontology, Human genome, SNP
Funded by
NIH| UniProt: A Centralized Protein Sequence and Function Resource
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 3U41HG006104-03S1
  • Funding stream: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
,
WT
Project
  • Funder: Wellcome Trust (WT)
,
EC| GEN2PHEN
Project
GEN2PHEN
Genotype-To-Phenotype Databases: A Holistic Solution
  • Funder: European Commission (EC)
  • Project Code: 200754
  • Funding stream: FP7 | SP1 | HEALTH
20 references, page 1 of 2

Manolio, TA. Cohort studies and the genetics of complex disease. Nat. Genet.. 2009; 41: 5-6 [PubMed]

Troutbeck, R, Al-Qureshi, S, Guymer, RH. Therapeutic targeting of the complement system in age-related macular degeneration: a review. Clin. Exp. Ophthalmol.. 2012; 40: 18-26

Voight, B, Scott, L, Steinthorsdottir, V, Morris, A, Dina, C, Welch, R, Zeggini, E, Huth, C, Aulchenko, Y, Thorleifsson, G. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat. Genet.. 2010; 42: 579-589 [OpenAIRE] [PubMed]

Schunkert, H, König, IR, Kathiresan, S, Reilly, MP, Assimes, TL, Holm, H, Preuss, M, Stewart, AFR, Barbalic, M, Gieger, C. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Circ. Cardiovasc. Genet.. 2011; 43: 333-338 [OpenAIRE]

Franke, A, McGovern, DPB, Barrett, JC, Wang, K, Radford-Smith, GL, Ahmad, T, Lees, CW, Balschun, T, Lee, J, Roberts, R. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn’s disease susceptibility loci. Nat. Genet.. 2010; 42: 1118-1125 [OpenAIRE] [PubMed]

Saxena, R, Voight, BF, Lyssenko, V, Burtt, NP, de Bakker, PIW, Chen, H, Roix, JJ, Kathiresan, S, Hirschhorn, JN, Daly, MJ. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science. 2007; 316: 1331-1336 [PubMed]

Mailman, MD, Feolo, M, Jin, Y, Kimura, M, Tryka, K, Bagoutdinov, R, Hao, L, Kiang, A, Paschall, J, Phan, L. The NCBI dbGaP database of genotypes and phenotypes. Nat. Genet.. 2007; 39: 1181-1186 [OpenAIRE] [PubMed]

Hindorff, LA, Sethupathy, P, Junkins, HA, Ramos, EM, Mehta, JP, Collins, FS, Manolio, TA. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl Acad. Sci. USA. 2009; 106: 9362-9367 [OpenAIRE] [PubMed]

Washington, DC: Central Intelligence Agency. 2013

Smith, B, Ashburner, M, Rosse, C, Bard, J, Bug, W, Ceusters, W, Goldberg, LJ, Eilbeck, K, Ireland, A, Mungall, CJ. The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration. Nat. Biotechnol.. 2007; 25: 1251-1255 [OpenAIRE] [PubMed]

Smith, MK, Welty, C, McGuinness, DL. Web ontology language. In:. W3C Recommendation. 2009

Robinson, PN, Mundlos, S. The human phenotype ontology. Clin. Genet.. 2010; 77: 525-534 [OpenAIRE] [PubMed]

Schriml, LM, Arze, C, Nadendla, S, Chang, Y-WW, Mazaitis, M, Felix, V, Feng, G, Kibbe, WA. Disease Ontology: a backbone for disease semantic integration. Nucleic Acids Res.. 2012; 40: D940-D946 [OpenAIRE] [PubMed]

Malone, J, Rayner, TF, Zheng Bradley, X, Parkinson, H. Developing an application focused experimental factor ontology: embracing the OBO Community. Proceedings of the Eleventh Annual Bioontologies Meeting. 2008

De Matos, P, Dekker, A, Ennis, M, Hastings, J, Haug, K, Turner, S, Steinbeck, C. ChEBI: a chemistry ontology and database. J. Cheminform.. 2010; 2: P6

20 references, page 1 of 2
Abstract
The National Human Genome Research Institute (NHGRI) Catalog of Published Genome-Wide Association Studies (GWAS) Catalog provides a publicly available manually curated collection of published GWAS assaying at least 100 000 single-nucleotide polymorphisms (SNPs) and all SNP-trait associations with P <1 × 10−5. The Catalog includes 1751 curated publications of 11 912 SNPs. In addition to the SNP-trait association data, the Catalog also publishes a quarterly diagram of all SNP-trait associations mapped to the SNPs’ chromosomal locations. The Catalog can be accessed via a tabular web interface, via a dynamic visualization on the human karyotype, as a downloadable ta...
Subjects
Medical Subject Headings: natural sciencesinformation sciencefungihealth care economics and organizations
free text keywords: VI. Genomic variation, diseases and drugs, Genetics, Genome-wide association study, Trait, Genome human, Biology, Gene ontology, Human genome, SNP
Funded by
NIH| UniProt: A Centralized Protein Sequence and Function Resource
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 3U41HG006104-03S1
  • Funding stream: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
,
WT
Project
  • Funder: Wellcome Trust (WT)
,
EC| GEN2PHEN
Project
GEN2PHEN
Genotype-To-Phenotype Databases: A Holistic Solution
  • Funder: European Commission (EC)
  • Project Code: 200754
  • Funding stream: FP7 | SP1 | HEALTH
20 references, page 1 of 2

Manolio, TA. Cohort studies and the genetics of complex disease. Nat. Genet.. 2009; 41: 5-6 [PubMed]

Troutbeck, R, Al-Qureshi, S, Guymer, RH. Therapeutic targeting of the complement system in age-related macular degeneration: a review. Clin. Exp. Ophthalmol.. 2012; 40: 18-26

Voight, B, Scott, L, Steinthorsdottir, V, Morris, A, Dina, C, Welch, R, Zeggini, E, Huth, C, Aulchenko, Y, Thorleifsson, G. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat. Genet.. 2010; 42: 579-589 [OpenAIRE] [PubMed]

Schunkert, H, König, IR, Kathiresan, S, Reilly, MP, Assimes, TL, Holm, H, Preuss, M, Stewart, AFR, Barbalic, M, Gieger, C. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Circ. Cardiovasc. Genet.. 2011; 43: 333-338 [OpenAIRE]

Franke, A, McGovern, DPB, Barrett, JC, Wang, K, Radford-Smith, GL, Ahmad, T, Lees, CW, Balschun, T, Lee, J, Roberts, R. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn’s disease susceptibility loci. Nat. Genet.. 2010; 42: 1118-1125 [OpenAIRE] [PubMed]

Saxena, R, Voight, BF, Lyssenko, V, Burtt, NP, de Bakker, PIW, Chen, H, Roix, JJ, Kathiresan, S, Hirschhorn, JN, Daly, MJ. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science. 2007; 316: 1331-1336 [PubMed]

Mailman, MD, Feolo, M, Jin, Y, Kimura, M, Tryka, K, Bagoutdinov, R, Hao, L, Kiang, A, Paschall, J, Phan, L. The NCBI dbGaP database of genotypes and phenotypes. Nat. Genet.. 2007; 39: 1181-1186 [OpenAIRE] [PubMed]

Hindorff, LA, Sethupathy, P, Junkins, HA, Ramos, EM, Mehta, JP, Collins, FS, Manolio, TA. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl Acad. Sci. USA. 2009; 106: 9362-9367 [OpenAIRE] [PubMed]

Washington, DC: Central Intelligence Agency. 2013

Smith, B, Ashburner, M, Rosse, C, Bard, J, Bug, W, Ceusters, W, Goldberg, LJ, Eilbeck, K, Ireland, A, Mungall, CJ. The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration. Nat. Biotechnol.. 2007; 25: 1251-1255 [OpenAIRE] [PubMed]

Smith, MK, Welty, C, McGuinness, DL. Web ontology language. In:. W3C Recommendation. 2009

Robinson, PN, Mundlos, S. The human phenotype ontology. Clin. Genet.. 2010; 77: 525-534 [OpenAIRE] [PubMed]

Schriml, LM, Arze, C, Nadendla, S, Chang, Y-WW, Mazaitis, M, Felix, V, Feng, G, Kibbe, WA. Disease Ontology: a backbone for disease semantic integration. Nucleic Acids Res.. 2012; 40: D940-D946 [OpenAIRE] [PubMed]

Malone, J, Rayner, TF, Zheng Bradley, X, Parkinson, H. Developing an application focused experimental factor ontology: embracing the OBO Community. Proceedings of the Eleventh Annual Bioontologies Meeting. 2008

De Matos, P, Dekker, A, Ennis, M, Hastings, J, Haug, K, Turner, S, Steinbeck, C. ChEBI: a chemistry ontology and database. J. Cheminform.. 2010; 2: P6

20 references, page 1 of 2
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publication . Other literature type . Article . 2014

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations.

Welter, Danielle; MacArthur, Jacqueline; Morales, Joannella; Burdett, Tony; Hall, Peggy; Junkins, Heather; Klemm, Alan; Flicek, Paul; Manolio, Teri; Hindorff, Lucia; ...