File Download
  Links for fulltext
     (May Require Subscription)
Supplementary

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

TitleGWASdb v2: an update database for human genetic variants identified by genome-wide association studies
Authors
Issue Date2016
PublisherOxford University Press. The Journal's web site is located at http://nar.oxfordjournals.org/
Citation
Nucleic Acids Research, 2016, v. 44 n. D1, p. D869-D876 How to Cite?
AbstractGenome-wide association studies (GWASs), now as a routine approach to study single-nucleotide polymorphism (SNP)-trait association, have uncovered over ten thousand significant trait/disease associated SNPs (TASs). Here, we updated GWASdb (GWASdb v2, http://jjwanglab.org/gwasdb) which provides comprehensive data curation and knowledge integration for GWAS TASs. These updates include: (i) Up to August 2015, we collected 2479 unique publications from PubMed and other resources; (ii) We further curated moderate SNP-trait associations (P-value < 1.0×10-3) from each original publication, and generated a total of 252 530 unique TASs in all GWASdb v2 collected studies; (iii) We manually mapped 1610 GWAS traits to 501 Human Phenotype Ontology (HPO) terms, 435 Disease Ontology (DO) terms and 228 Disease Ontology Lite (DOLite) terms. For each ontology term, we also predicted the putative causal genes; (iv) We curated the detailed sub-populations and related sample size for each study; (v) Importantly, we performed extensive function annotation for each TAS by incorporating gene-based information, ENCODE ChIP-seq assays, eQTL, population haplotype, functional prediction across multiple biological domains, evolutionary signals and disease-related annotation; (vi) Additionally, we compiled a SNP-drug response association dataset for 650 pharmacogenetic studies involving 257 drugs in this update; (vii) Last, we improved the user interface of website.
Persistent Identifierhttp://hdl.handle.net/10722/234017
ISSN
2023 Impact Factor: 16.6
2023 SCImago Journal Rankings: 7.048
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorLi, MJ-
dc.contributor.authorLiu, Z-
dc.contributor.authorWang, P-
dc.contributor.authorWong, MP-
dc.contributor.authorNelson, M-
dc.contributor.authorKocher, JPA-
dc.contributor.authorYeager, M-
dc.contributor.authorSham, PC-
dc.contributor.authorChanock, SJ-
dc.contributor.authorXia, Z-
dc.contributor.authorWang, J-
dc.date.accessioned2016-10-14T06:58:30Z-
dc.date.available2016-10-14T06:58:30Z-
dc.date.issued2016-
dc.identifier.citationNucleic Acids Research, 2016, v. 44 n. D1, p. D869-D876-
dc.identifier.issn0305-1048-
dc.identifier.urihttp://hdl.handle.net/10722/234017-
dc.description.abstractGenome-wide association studies (GWASs), now as a routine approach to study single-nucleotide polymorphism (SNP)-trait association, have uncovered over ten thousand significant trait/disease associated SNPs (TASs). Here, we updated GWASdb (GWASdb v2, http://jjwanglab.org/gwasdb) which provides comprehensive data curation and knowledge integration for GWAS TASs. These updates include: (i) Up to August 2015, we collected 2479 unique publications from PubMed and other resources; (ii) We further curated moderate SNP-trait associations (P-value < 1.0×10-3) from each original publication, and generated a total of 252 530 unique TASs in all GWASdb v2 collected studies; (iii) We manually mapped 1610 GWAS traits to 501 Human Phenotype Ontology (HPO) terms, 435 Disease Ontology (DO) terms and 228 Disease Ontology Lite (DOLite) terms. For each ontology term, we also predicted the putative causal genes; (iv) We curated the detailed sub-populations and related sample size for each study; (v) Importantly, we performed extensive function annotation for each TAS by incorporating gene-based information, ENCODE ChIP-seq assays, eQTL, population haplotype, functional prediction across multiple biological domains, evolutionary signals and disease-related annotation; (vi) Additionally, we compiled a SNP-drug response association dataset for 650 pharmacogenetic studies involving 257 drugs in this update; (vii) Last, we improved the user interface of website.-
dc.languageeng-
dc.publisherOxford University Press. The Journal's web site is located at http://nar.oxfordjournals.org/-
dc.relation.ispartofNucleic Acids Research-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.titleGWASdb v2: an update database for human genetic variants identified by genome-wide association studies-
dc.typeArticle-
dc.identifier.emailWong, MP: mwpik@hku.hk-
dc.identifier.emailSham, PC: pcsham@hku.hk-
dc.identifier.emailXia, Z: zyxia@hkucc.hku.hk-
dc.identifier.authorityWong, MP=rp00348-
dc.identifier.authoritySham, PC=rp00459-
dc.identifier.authorityXia, Z=rp00532-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1093/nar/gkv1317-
dc.identifier.pmid26615194-
dc.identifier.pmcidPMC4702921-
dc.identifier.scopuseid_2-s2.0-84976871516-
dc.identifier.hkuros267510-
dc.identifier.volume44-
dc.identifier.issueD1-
dc.identifier.spageD869-
dc.identifier.epageD876-
dc.identifier.isiWOS:000371261700123-
dc.publisher.placeUnited Kingdom-
dc.identifier.issnl0305-1048-

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats