Unfazed: parent-of-origin detection for large and small de novo variants
Unfazed: parent-of-origin detection for large and small de novo variants
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.
Belyeu Jonathan R.、Sasani Thomas A.、Pedersen Brent S.、Quinlan Aaron R.
Department of Human Genetics||Utah Center for Genetic Discovery, University of UtahDepartment of Human Genetics||Utah Center for Genetic Discovery, University of Utah||Department of Genome Sciences, University of WashingtonDepartment of Human Genetics||Utah Center for Genetic Discovery, University of UtahDepartment of Human Genetics||Utah Center for Genetic Discovery, University of Utah
遗传学生物科学研究方法、生物科学研究技术生物科学现状、生物科学发展
Belyeu Jonathan R.,Sasani Thomas A.,Pedersen Brent S.,Quinlan Aaron R..Unfazed: parent-of-origin detection for large and small de novo variants[EB/OL].(2025-03-28)[2025-05-17].https://www.biorxiv.org/content/10.1101/2021.02.03.429658.点此复制
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