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bioRxiv · 10.1101/2021.02.03.429658

Unfazed: parent-of-origin detection for large and small de novo variants

Belyeu, J. R.·Sasani, T. A.·Pedersen, B. S.·Quinlan, A. R.
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Abstract

SummaryUnfazed 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. AvailabilityUnfazed is available at https://github.com/ibelyeu/unfazed.

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Belyeu, J. R., Sasani, T. A., Pedersen, B. S., Quinlan, A. R.. 2021-02-03. Unfazed: parent-of-origin detection for large and small de novo variants. https://doi.org/10.1101/2021.02.03.429658

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