Unfazed: parent-of-origin detection for large and smallde novovariants

AbstractSummaryUnfazedis a command-line tool to determine the parental gamete of origin forde novomutations from paired-end Illumina DNA sequencing reads.Unfazeduses variant information for a sequenced trio to identify the parental gamete of origin by linking phase-informative inherited variants tode novomutations using read-based phasing. It achieves a high success rate by chaining reads into haplotype groups, thus increasing the search space for informative sites. Unfazed provides a simple command-line interface and scales well to large inputs, determining parent-of-origin for nearly 30,000de novovariants in under 60 hours.AvailabilityUnfazed is available athttps://github.com/ibelyeu/unfazed.