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Chunk #25 — GENEVA’S POTENTIAL CONTRIBUTIONS TO ACCELERATING DEVELOPMENTS IN GENETIC EPIDEMIOLOGY — GENOTYPING QC AND ASSURANCE

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The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions.
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Given the diverse structures of the studies, data quality standards are decided for each study as part of the collaborative QC process. The CC prepares a detailed report regarding the outcomes of each measure. These reports are provided through the controlled access process of dbGaP, along with the unfiltered data set, a set of filters and a tool to apply the filters to create a filtered data set. Thus far, GENEVA has focused on SNPs, but the GCs have plans to implement QC/QA metrics for CNVs once common CNV maps are established and detection methods are more standardized.