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Chunk #30 — Materials and Methods — NHGRI database of trait-associated SNPs

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A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci.
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The National Human Genome Research Institute (NHGRI) curates the results of published GWAS and makes them publicly available in an online catalog of SNP-trait associations. This catalog provides a useful resource for the investigation of genomic characteristics of trait-associated SNPs and of the role of common variants in common disease etiology [9]. The version we utilized for our present study was retrieved on June 29, 2009. SNP-trait associations included in the catalog are those with p values<1.0×10−5, and generally only one SNP within a gene or a high LD region is included unless there is evidence of an independent association. To evaluate whether our observation on the significant enrichment among tagged CNVs for trait-associated SNPs is driven by certain traits or disease classes, we considered separately various disease types, including neuropsychiatric disorders, cancers, and autoimmune disorders.