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Chunk #12 — 2 Methods — 2.2 Companion features — 2.2.2 Data QC, variant and sample selections

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RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data.
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A critical step in genetic association analyses and meta-analyses is to examine the quality of the datasets. RVTESTS implements comprehensive features for checking strand flips and reference/alternative allele swaps, among others. It will automatically generate a variety of per-variant QC metrics, including Hardy Weinberg equilibrium P-values, variant call rates and global QC metrics, including the transition/transversion ratio. RVTESTS supports selecting a subset of samples for association analyses as well as filtering variants based on generated QC metrics and genotype qualities.