\nThis track displays single nucleotide polymorphisms (SNPs) identified by published \nGenome-Wide Association Studies (GWAS), collected in the \nNHGRI-EBI GWAS Catalog\npublished jointly by the National\nHuman Genome Research Institute (NHGRI) and the European Bioinformatics Institute (EMBL-EBI).\nSome abbreviations\nare used above.\n
\n\nFrom http://www.ebi.ac.uk/gwas/docs/about:\n
\nThe Catalog is a quality controlled, manually curated, literature-derived\ncollection of all published genome-wide association studies assaying at least\n100,000 SNPs and all SNP-trait associations with p-values < 1.0 x\n10-5 (Hindorff et al., 2009). For more details about the Catalog\ncuration process and data extraction procedures, please refer to the\nMethods page.\n\n\n\n
\nFrom http://www.ebi.ac.uk/gwas/docs/methods:\n
\nThe GWAS Catalog data is extracted from the literature. Extracted information\nincludes publication information, study cohort information such as cohort size,\ncountry of recruitment and subject ethnicity, and SNP-disease association\ninformation including SNP identifier (i.e. RSID), p-value, gene and risk\nallele. Each study is also assigned a trait that best represents the phenotype\nunder investigation. When multiple traits are analysed in the same study either\nmultiple entries are created, or individual SNPs are annotated with their\nspecific traits. Traits are used both to query and visualise the data in the\nCatalog's web form and diagram-based query interfaces.\n\n\n\n
\nData extraction and curation for the GWAS Catalog is an expert activity; each\nstep is performed by scientists supported by a web-based tracking and data\nentry system which allows multiple curators to search, annotate, verify and\npublish the Catalog data. Papers that qualify for inclusion in the Catalog are\nidentified through weekly PubMed searches. They then undergo two levels of\ncuration. First all data, including association information for SNPs, traits\nand general information about the study, are extracted by one curator. A second\ncurator then performs an additional round of curation to double-check the\naccuracy and consistency of all the information. Finally, an automated pipeline\nperforms validation of the extracted data, see the\nQuality control and SNP mapping section below for more\ndetails. This information is then used for queries and in the production of the\ndiagram.\n
\nHindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS, Manolio TA.\n\nPotential etiologic and functional implications of genome-wide association loci for human diseases\nand traits.\nProc Natl Acad Sci U S A. 2009 Jun 9;106(23):9362-7.\nPMID: 19474294; PMC: