Chunk #48 — MATERIALS AND METHODS — QC and association testing — Quality control

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Novel common copy number variation for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysis.

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Regarding QC of the CNVR determination, we limited our analyses to CNVRs for which the genomic variability-irrespective of phenotype (i.e. in cases, controls, parents and offspring)-was at least 5% based on each of the two reference samples used for copy number calling (Supplementary Material, Table S1). The mean individual concordance rates between the use of both reference samples for called CNSs 0, 1, 3 and 4+ were 97.83% (range: 84.67–99.90%) in the family-based GWAS sample and 94.53% (range: 83.61–99.79%) in the case–control GWAS sample.