Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads

Summary: Linked-read sequencing enables greatly improves haplotype assembly over standard paired-end analysis. The detection of mosaic single-nucleotide variants benefits from haplotype assembly when the model is informed by the mapping between constituent reads and linked reads. Samovar evaluates h...

Full description

Bibliographic Details
Main Authors: Charlotte A. Darby, James R. Fitch, Patrick J. Brennan, Benjamin J. Kelly, Natalie Bir, Vincent Magrini, Jeffrey Leonard, Catherine E. Cottrell, Julie M. Gastier-Foster, Richard K. Wilson, Elaine R. Mardis, Peter White, Ben Langmead, Michael C. Schatz
Format: Article
Language:English
Published: Elsevier 2019-08-01
Series:iScience
Online Access:http://www.sciencedirect.com/science/article/pii/S2589004219301749