{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T09:12:06Z","timestamp":1781601126186,"version":"3.54.5"},"reference-count":20,"publisher":"Oxford University Press (OUP)","issue":"22","license":[{"start":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T00:00:00Z","timestamp":1559001600000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>We describe a novel computational method for genotyping repeats using sequence graphs. This method addresses the long-standing need to accurately genotype medically important loci containing repeats adjacent to other variants or imperfect DNA repeats such as polyalanine repeats. Here we introduce a new version of our repeat genotyping software, ExpansionHunter, that uses this method to perform targeted genotyping of a broad class of such loci.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Availability and implementation<\/jats:title>\n                    <jats:p>ExpansionHunter is implemented in C++ and is available under the Apache License Version 2.0. The source code, documentation, and Linux\/macOS binaries are available at https:\/\/github.com\/Illumina\/ExpansionHunter\/.<\/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\/btz431","type":"journal-article","created":{"date-parts":[[2019,5,23]],"date-time":"2019-05-23T23:27:52Z","timestamp":1558654072000},"page":"4754-4756","source":"Crossref","is-referenced-by-count":378,"title":["ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions"],"prefix":"10.1093","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3296-0677","authenticated-orcid":false,"given":"Egor","family":"Dolzhenko","sequence":"first","affiliation":[{"name":"Illumina Inc. , San Diego, CA 92122, 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