Ontology highlight
ABSTRACT:
SUBMITTER: Darby CA
PROVIDER: S-EPMC6609817 | biostudies-other | 2019 Aug
REPOSITORIES: biostudies-other
Darby Charlotte A CA Fitch James R JR Brennan Patrick J PJ Kelly Benjamin J BJ Bir Natalie N Magrini Vincent V Leonard Jeffrey J Cottrell Catherine E CE Gastier-Foster Julie M JM Wilson Richard K RK Mardis Elaine R ER White Peter P Langmead Ben B Schatz Michael C MC
iScience 20190529
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 haplotype-discordant reads identified through linked-read sequencing, thus enabling phasing and mosaic variant detection across the entire genome. Samovar trains a random forest model to score candidate sites u ...[more]