{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T10:41:57Z","timestamp":1774521717523,"version":"3.50.1"},"reference-count":21,"publisher":"Oxford University Press (OUP)","issue":"18","license":[{"start":{"date-parts":[[2021,2,4]],"date-time":"2021-02-04T00:00:00Z","timestamp":1612396800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Netherlands Bioinformatics Centre"},{"name":"Netherlands Genomics Initiative"},{"name":"Dutch National Program COMMIT"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,9,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Motivation<\/jats:title>\n                    <jats:p>Unambiguous variant descriptions are of utmost importance in clinical genetic diagnostics, scientific literature and genetic databases. The Human Genome Variation Society (HGVS) publishes a comprehensive set of guidelines on how variants should be correctly and unambiguously described. We present the implementation of the Mutalyzer 2 tool suite, designed to automatically apply the HGVS guidelines so users do not have to deal with the HGVS intricacies explicitly to check and correct their variant descriptions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Mutalyzer is profusely used by the community, having processed over 133 million descriptions since its launch. Over a five year period, Mutalyzer reported a correct input in \u223c50% of cases. In 41% of the cases either a syntactic or semantic error was identified and for \u223c7% of cases, Mutalyzer was able to automatically correct the description.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Availability and implementation<\/jats:title>\n                    <jats:p>Mutalyzer is an Open Source project under the GNU Affero General Public License. The source code is available on GitHub (https:\/\/github.com\/mutalyzer\/mutalyzer) and a running instance is available at: https:\/\/mutalyzer.nl<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/bioinformatics\/btab051","type":"journal-article","created":{"date-parts":[[2021,1,23]],"date-time":"2021-01-23T10:58:04Z","timestamp":1611399484000},"page":"2811-2817","source":"Crossref","is-referenced-by-count":105,"title":["Mutalyzer 2: next generation HGVS nomenclature checker"],"prefix":"10.1093","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3876-4754","authenticated-orcid":false,"given":"Mihai","family":"Lefter","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center (LUMC) Leiden, The Netherlands"}]},{"given":"Jonathan K","family":"Vis","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center (LUMC) Leiden, The Netherlands"},{"name":"Department of Clinical Genetics, Leiden University Medical Center (LUMC) Leiden, The Netherlands"}]},{"given":"Martijn","family":"Vermaat","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center (LUMC) Leiden, The Netherlands"}]},{"given":"Johan T","family":"den Dunnen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center (LUMC) Leiden, The Netherlands"},{"name":"Department of Clinical Genetics, Leiden University Medical Center (LUMC) Leiden, The Netherlands"}]},{"given":"Peter E M","family":"Taschner","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center (LUMC) Leiden, The Netherlands"},{"name":"Generade Centre of Expertise Genomics and Leiden Centre for Applied Bioscience, University of Applied Sciences Leiden , Leiden, The Netherlands"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8715-7371","authenticated-orcid":false,"given":"Jeroen F J","family":"Laros","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center (LUMC) Leiden, The Netherlands"},{"name":"Department of Clinical Genetics, Leiden University Medical Center (LUMC) Leiden, The Netherlands"},{"name":"National Institute for Public Health and the Environment (RIVM) , Bthoven, The Netherlands"}]}],"member":"286","published-online":{"date-parts":[[2021,2,4]]},"reference":[{"key":"2023061310492746500_btab051-B1","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1002\/humu.1380080302","article-title":"Update on nomenclature for human gene mutations","volume":"8","year":"1996","journal-title":"Hum. 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