{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:06:44Z","timestamp":1761102404077},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"S7","license":[{"start":{"date-parts":[[2010,10,1]],"date-time":"2010-10-01T00:00:00Z","timestamp":1285891200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Bioinformatics"],"published-print":{"date-parts":[[2010,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Homozygosity mapping is a powerful procedure that is capable of detecting recessive disease-causing genes in a few patients from families with a history of inbreeding. We report here a homozygosity mapping algorithm for high-density single nucleotide polymorphism arrays that is able to (i) correct genotyping errors, (ii) search for autozygous segments genome-wide through regions with runs of homozygous SNPs, (iii) check the validity of the inbreeding history, and (iv) calculate the probability of the disease-causing gene being located in the regions identified. The genotyping error correction restored an average of 94.2% of the total length of all regions with run of homozygous SNPs, and 99.9% of the total length of them that were longer than 2 cM. At the end of the analysis, we would know the probability that regions identified contain a disease-causing gene, and we would be able to determine how much effort should be devoted to scrutinizing the regions. We confirmed the power of this algorithm using 6 patients with Siiyama-type \u03b11-antitrypsin deficiency, a rare autosomal recessive disease in Japan. Our procedure will accelerate the identification of disease-causing genes using high-density SNP array data.<\/jats:p>","DOI":"10.1186\/1471-2105-11-s7-s5","type":"journal-article","created":{"date-parts":[[2019,12,11]],"date-time":"2019-12-11T01:59:07Z","timestamp":1576029547000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data"],"prefix":"10.1186","volume":"11","author":[{"family":"Huqun*","sequence":"first","affiliation":[]},{"given":"Shun-ichiro","family":"Fukuyama","sequence":"additional","affiliation":[]},{"given":"Hiroyuki","family":"Morino","sequence":"additional","affiliation":[]},{"given":"Hiroshi","family":"Miyazawa","sequence":"additional","affiliation":[]},{"given":"Tomoaki","family":"Tanaka","sequence":"additional","affiliation":[]},{"given":"Tomoko","family":"Suzuki","sequence":"additional","affiliation":[]},{"given":"Masakazu","family":"Kohda","sequence":"additional","affiliation":[]},{"given":"Hideshi","family":"Kawakami","sequence":"additional","affiliation":[]},{"given":"Yasushi","family":"Okazaki","sequence":"additional","affiliation":[]},{"given":"Kuniaki","family":"Seyama","sequence":"additional","affiliation":[]},{"given":"Koichi","family":"Hagiwara","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2010,10,15]]},"reference":[{"key":"4243_CR1","doi-asserted-by":"publisher","first-page":", 588","DOI":"10.1086\/514346","volume":"80","author":"VA McKusick","year":"2007","unstructured":"McKusick VA: Mendelian Inheritance in Man and its online version, OMIM. 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