Illustration of mapping artifacts resulting in false positive variant detection.

Abstract

<p>The illustrated sample carries a mutation in the maternal copy of a pseudogene of <i>NBPF10</i>. If the pseudogene is not included in the reference sequence, the reads originating from this pseudogene are mismapped. This may result in a false variant call. Indicative for false genotype calls are proportions of reads supporting the alternate allele that strongly deviate from 0.5 or 1.</p