Statistical Bioinformatics Webinar: Tarr -- The Use of Duplicate Samples to Improve Rare Variant Quality Control in Whole Genome Sequencing Studies

Presenter: Ingrid Tarr (Victor Chang Cardiac Research Institute) Abstract: Whole genome
sequencing has transformed our ability to detect associations between phenotypes and
genetic variants, however, the amount of erroneous variant calls has also drastically
increased.  Even with low error rates, a significant quantity of called variants will be
false positives.  These are particularly concerning in unbiased genome-wide rare variant
analyses, where a smaller number of false variants can have a meaningful impact on
results while broad confirmation of variants is unfeasible.  Currently, evidence
informing rare variant filtering is lacking and there is no consensus regarding
indicators of poor variants.  The ability of common GATK metrics to discriminate
true-positive and false-positive rare variant calls from samples sequenced in duplicate
will be discussed.