RT Journal Article
SR Electronic
T1 Unfazed: parent-of-origin detection for large and small <em>de novo</em> variants
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 2021.02.03.429658
DO 10.1101/2021.02.03.429658
A1 Jonathan R. Belyeu
A1 Thomas A. Sasani
A1 Brent S. Pedersen
A1 Aaron R. Quinlan
YR 2021
UL http://biorxiv.org/content/early/2021/02/03/2021.02.03.429658.abstract
AB Summary Unfazed is a command-line tool to determine the parental gamete of origin for de novo mutations from paired-end Illumina DNA sequencing reads. Unfazed uses variant information for a sequenced trio to identify the parental gamete of origin by linking phase-informative inherited variants to de novo mutations 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 30,000 de novo variants in under 60 hours.Availability Unfazed is available at https://github.com/ibelyeu/unfazed.Competing Interest StatementThe authors have declared no competing interest.