Congratulations to PhD student Charlotte Darby for winning the RECOMB-seq 2019 Best Paper award for her paper “Samovar: Single-sample mosaic SNV calling with linked reads.” The preprint is available at: https://www.biorxiv.org/content/10.1101/560532v1, and the full paper is in press at iScience. Many thanks to the organizers for this honor!
Samovar is a new software tool for detecting mosaic single-nucleotide variants (SNVs) in linked-read whole-genome shotgun sequencing data. It calls mosaic SNVs within a single sample with accuracy comparable to what previously required trios or matched tumor/normal pairs and outperform single-sample mosaic variant callers. The study shows that Samovar can find somatic variants in whole genome sequencing of both tumor and normal from 13 pediatric cancer cases, corroborated with high recall using whole exome sequencing. Samovar is available open-source at https://github.com/cdarby/samovar under the MIT license. This is joint work with Mike Schatz (Charlotte’s co-advisor) and a team from Nationwide Children’s Hospital in Columbus, Ohio.