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

View ORCID ProfileJonathan R. Belyeu, View ORCID ProfileThomas A. Sasani, View ORCID ProfileBrent S. Pedersen, View ORCID ProfileAaron R. Quinlan
doi: https://doi.org/10.1101/2021.02.03.429658
Jonathan R. Belyeu
1Department of Human Genetics
2Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT 84112, USA
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  • ORCID record for Jonathan R. Belyeu
Thomas A. Sasani
1Department of Human Genetics
2Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT 84112, USA
3Department of Genome Sciences, University of Washington, Seattle, WA 98195
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Brent S. Pedersen
1Department of Human Genetics
2Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT 84112, USA
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Aaron R. Quinlan
1Department of Human Genetics
2Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT 84112, USA
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  • For correspondence: aaronquinlan@gmail.com
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Abstract

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 Statement

The authors have declared no competing interest.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license.
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Posted February 03, 2021.
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Unfazed: parent-of-origin detection for large and small de novo variants
Jonathan R. Belyeu, Thomas A. Sasani, Brent S. Pedersen, Aaron R. Quinlan
bioRxiv 2021.02.03.429658; doi: https://doi.org/10.1101/2021.02.03.429658
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Unfazed: parent-of-origin detection for large and small de novo variants
Jonathan R. Belyeu, Thomas A. Sasani, Brent S. Pedersen, Aaron R. Quinlan
bioRxiv 2021.02.03.429658; doi: https://doi.org/10.1101/2021.02.03.429658

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