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Chunk #11 — Variant calling and Quality Control filtering of exome sequencing datasets

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Exome sequencing and the genetic basis of complex traits.
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Comparing our callset with GWAS data in the same samples at overlapping sites suggested high sensitivity for common variants (98.6% NRS). To assess quality of low frequency variant calls in a comparable sequencing dataset we compared CGI data to Omni chip from the 1000 Genomes project (Supplementary Table 2). This comparison resulted in 95.65% NRS, 1.79% NRD and 1.12% NRD for novel variants.