{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,9]],"date-time":"2025-06-09T13:30:04Z","timestamp":1749475804567,"version":"3.37.3"},"reference-count":17,"publisher":"Oxford University Press (OUP)","issue":"W1","license":[{"start":{"date-parts":[[2022,4,30]],"date-time":"2022-04-30T00:00:00Z","timestamp":1651276800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002839","name":"Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002839","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,7,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>With the shift from SNP arrays to high-throughput sequencing, most researchers studying diseases in consanguineous families do not rely on linkage analysis any longer, but simply search for deleterious variants which are homozygous in all patients. AutozygosityMapper allows the fast and convenient identification of disease mutations in patients from consanguineous pedigrees by focussing on homozygous segments shared by all patients. Users can upload multi-sample VCF files, including WGS data, without any pre-processing. Genome-wide runs of homozygosity and the underlying genotypes are presented in graphical interfaces. AutozygosityMapper extends the functions of its predecessor, HomozygosityMapper, to the search for autozygous regions, in which all patients share the same homozygous genotype. We provide export of VCF files containing only the variants found in homozygous regions, this usually reduces the number of variants by two orders of magnitude. These regions can also directly be analysed with our disease mutation identification tool MutationDistiller. The application comes with simple and intuitive graphical interfaces for data upload, analysis, and results. We kept the structure of HomozygosityMapper so that previous users will find it easy to switch. With AutozygosityMapper, we provide a fast web-based way to identify disease mutations in consanguineous families. AutozygosityMapper is freely available at https:\/\/www.genecascade.org\/AutozygosityMapper\/.<\/jats:p>","DOI":"10.1093\/nar\/gkac280","type":"journal-article","created":{"date-parts":[[2022,4,14]],"date-time":"2022-04-14T11:18:52Z","timestamp":1649935132000},"page":"W83-W89","source":"Crossref","is-referenced-by-count":4,"title":["AutozygosityMapper: Identification of disease-mutations in consanguineous families"],"prefix":"10.1093","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6613-4675","authenticated-orcid":false,"given":"Robin","family":"Steinhaus","sequence":"first","affiliation":[{"name":"Exploratory Diagnostic Sciences, Berliner Institut f\u00fcr Gesundheitsforschung , Berlin\u00a010117, Germany"},{"name":"Institut f\u00fcr Medizinische Genetik und Humangenetik, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, Berlin\u00a013353, Germany"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9410-9290","authenticated-orcid":false,"given":"Felix","family":"Boschann","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Medizinische Genetik und Humangenetik, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, Berlin\u00a013353, Germany"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3602-5595","authenticated-orcid":false,"given":"Melanie","family":"Vogel","sequence":"additional","affiliation":[{"name":"Exploratory Diagnostic Sciences, Berliner Institut f\u00fcr Gesundheitsforschung , Berlin\u00a010117, Germany"},{"name":"FB Mathematik und Informatik, Freie Universit\u00e4t Berlin , Berlin\u00a014195, Germany"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1075-7571","authenticated-orcid":false,"given":"Bj\u00f6rn","family":"Fischer-Zirnsak","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Medizinische Genetik und Humangenetik, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, Berlin\u00a013353, Germany"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9746-4412","authenticated-orcid":false,"given":"Dominik","family":"Seelow","sequence":"additional","affiliation":[{"name":"Exploratory Diagnostic Sciences, Berliner Institut f\u00fcr Gesundheitsforschung , Berlin\u00a010117, Germany"},{"name":"Institut f\u00fcr Medizinische Genetik und Humangenetik, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, Berlin\u00a013353, Germany"}]}],"member":"286","published-online":{"date-parts":[[2022,4,30]]},"reference":[{"key":"2022070423583781200_B1","doi-asserted-by":"crossref","first-page":"e1000353","DOI":"10.1371\/journal.pgen.1000353","article-title":"A systematic approach to mapping recessive disease genes in individuals from outbred populations","volume":"5","author":"Hildebrandt","year":"2009","journal-title":"PLoS Genet"},{"key":"2022070423583781200_B2","doi-asserted-by":"crossref","first-page":"W593","DOI":"10.1093\/nar\/gkp369","article-title":"HomozygosityMapper\u2013an interactive approach to homozygosity mapping","volume":"37","author":"Seelow","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"2022070423583781200_B3","doi-asserted-by":"crossref","first-page":"W516","DOI":"10.1093\/nar\/gks487","article-title":"HomozygosityMapper2012\u2013bridging the gap between homozygosity mapping and deep sequencing","volume":"40","author":"Seelow","year":"2012","journal-title":"Nucleic Acids Res"},{"key":"2022070423583781200_B4","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1038\/s41431-020-00767-9","article-title":"Genetic analysis of ALS cases in the isolated island population of malta","volume":"29","author":"Borg","year":"2021","journal-title":"Eur. 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