{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T20:34:05Z","timestamp":1772138045926,"version":"3.50.1"},"reference-count":11,"publisher":"Oxford University Press (OUP)","issue":"24","license":[{"start":{"date-parts":[[2021,6,19]],"date-time":"2021-06-19T00:00:00Z","timestamp":1624060800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"US National Human Genomic Research Institute","award":["NIH HG006693"],"award-info":[{"award-number":["NIH HG006693"]}]},{"name":"US National Human Genomic Research Institute","award":["NIH HG009141"],"award-info":[{"award-number":["NIH HG009141"]}]},{"DOI":"10.13039\/100000057","name":"US National Institute of General Medical Sciences","doi-asserted-by":"crossref","award":["NIH GM124355"],"award-info":[{"award-number":["NIH GM124355"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,12,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>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 h.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Availability and implementation<\/jats:title>\n                    <jats:p>Unfazed is available at https:\/\/github.com\/jbelyeu\/unfazed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Supplementary information<\/jats:title>\n                    <jats:p>Supplementary data are available at Bioinformatics online.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/bioinformatics\/btab454","type":"journal-article","created":{"date-parts":[[2021,6,16]],"date-time":"2021-06-16T07:12:37Z","timestamp":1623827557000},"page":"4860-4861","source":"Crossref","is-referenced-by-count":14,"title":["Unfazed: parent-of-origin detection for large and small\n                    <i>de novo<\/i>\n                    variants"],"prefix":"10.1093","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5470-8299","authenticated-orcid":false,"given":"Jonathan R","family":"Belyeu","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Salt Lake City , UT 84112, USA"},{"name":"Utah Center for Genetic Discovery, University of Utah, Salt Lake City , UT 84112, USA"}]},{"given":"Thomas A","family":"Sasani","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Salt Lake City , UT 84112, USA"},{"name":"Utah Center for Genetic Discovery, University of Utah, Salt Lake City , UT 84112, USA"},{"name":"Department of Genome Sciences, University of Washington , Seattle, WA 98195, USA"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1786-2216","authenticated-orcid":false,"given":"Brent S","family":"Pedersen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Salt Lake City , UT 84112, USA"},{"name":"Utah Center for Genetic Discovery, University of Utah, Salt Lake City , UT 84112, USA"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1756-0859","authenticated-orcid":false,"given":"Aaron R","family":"Quinlan","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Salt Lake City , UT 84112, USA"},{"name":"Utah Center for Genetic Discovery, University of Utah, Salt Lake City , UT 84112, USA"}]}],"member":"286","published-online":{"date-parts":[[2021,6,19]]},"reference":[{"key":"2023051607125279900_btab454-B1","first-page":"597\u2013607","article-title":"De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families","volume":"108","author":"Belyeu","year":"2020","journal-title":"Am. 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