Article

Samovar: Single-sample mosaic SNV calling with linked reads

2019-02-25

Abstract excerpt

We present Samovar, a mosaic single-nucleotide variant (SNV) caller for linked-read whole-genome shotgun sequencing data. Samovar scores candidate sites using a random forest model trained using the input dataset that considers read quality, phasing, and linked-read characteristics. We show Samovar calls mosaic SNVs within a single sample with accuracy comparable to what previously required trios or matched tumor/...

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Literature Corpus work: 7fe965b8-3ca4-5d26-b683-8c78a00029de
DOI: 10.1101/560532

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