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Chunk #35 — AUTHORITATIVE SOURCES OF INFORMATION

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The HapMap and genome-wide association studies in diagnosis and therapy.
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The HapMap continues to evolve, with new SNPs being identified and LD patterns defined in both the original and newer HapMap populations. The primary portal to HapMap genotype data, as well as publications, tutorials, and other relevant resources, is the International HapMap Project website at http://www.hapmap.org. An up-to-date catalog of GWA studies is provided by the NHGRI’s Office of Population Genomics at http://www.genome.gov/GWAstudies. This site lists all published studies attempting to assay 100,000 SNPs or more, noting the trait under investigation, the top new associations identified, their genomic region and nearby genes, p-values, odds ratios, and links to the PubMed citations. Study descriptions, protocols, and associa-tion findings are available for many NIH-supported GWA studies in dbGaP at http://www.ncbi.nlm.nih.gov/sites/entrez?db=gap, and individual-level data may be requested for download through the controlled-access portion of that site. Those seeking additional information on specific genes related to complex diseases should consult Online Mendelian Inheritance in Man (OMIM)at http://www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM, the definitive catalog of human genes and genetic disorders. Findings from GWA studies are added to genes described in OMIM on a regular basis. More relevant to