Congratulations to student Charlotte Darby for posting the Samovar preprint! 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.
Published:March 1, 2019
Bookmark the permalink
Both comments and trackbacks are currently closed.