{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1050299981545214976.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"HDL","@value":"https://hdl.handle.net/2324/7174412"}}],"resourceType":"学術雑誌論文(journal article)","dc:title":[{"@language":"en","@value":"Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders"}],"dc:language":"en","description":[{"type":"Abstract","notation":[{"@language":"en","@value":"The search for causative mutations in human genetic disorders has mainly focused on mutations that disrupt coding regions or splice sites. Recently, however, it has been reported that mutations creating splice sites can also cause a range of genetic disorders. In this study, we identified 5656 candidate splice-site-creating mutations (SCMs), of which 3942 are likely to be pathogenic, in 4054 genes responsible for genetic disorders. Reanalysis of exome data obtained from ciliopathy patients led us to identify 38 SCMs as candidate causative mutations. We estimate that, by focusing on SCMs, the increase in diagnosis rate is approximately 5.9–8.5% compared to the number of already known pathogenic variants. This finding suggests that SCMs are mutations worth focusing on in the search for causative mutations of genetic disorders."}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1070299981545214976","@type":"Researcher","personIdentifier":[{"@type":"ORCID","@value":"0000-0002-4077-0099"}],"foaf:name":[{"@language":"en","@value":"Sakaguchi, Narumi"},{"@language":"ja","@value":"坂口, 愛美"},{"@language":"ja-Kana","@value":"サカグチ, ナルミ"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Division of Bioinformatics, Medical Institute of Bioregulation, Kyushu University"},{"@language":"ja","@value":"九州大学生体防御医学研究所情報生物学分野"}]},{"@id":"https://cir.nii.ac.jp/crid/1070299981545214977","@type":"Researcher","personIdentifier":[{"@type":"ORCID","@value":"0000-0001-9526-3193"}],"foaf:name":[{"@language":"en","@value":"Suyama, Mikita"},{"@language":"ja","@value":"須山, 幹太"},{"@language":"ja-Kana","@value":"スヤマ, ミキタ"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Division of Bioinformatics, Medical Institute of Bioregulation, Kyushu University"},{"@language":"ja","@value":"九州大学生体防御医学研究所情報生物学分野"}]}],"publication":{"publicationIdentifier":[{"@type":"EISSN","@value":"20567944"}],"prism:publicationName":[{"@language":"en","@value":"npj Genomic Medicine"}],"dc:publisher":[{"@value":"Springer"}],"prism:publicationDate":"2022-03-18","prism:volume":"7","prism:number":"1"},"dc:rights":["Creative Commons Attribution 4.0 International","© The Author(s) 2022"],"foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=Disease%20genetics","dc:title":"Disease genetics"},{"@id":"https://cir.nii.ac.jp/all?q=Genetics%20research","dc:title":"Genetics research"}],"dcterms:subject":[{"subjectScheme":"Other","notation":[{"@language":"en","@value":"Disease genetics"}]},{"subjectScheme":"Other","notation":[{"@language":"en","@value":"Genetics research"}]}],"project":[{"@id":"https://cir.nii.ac.jp/crid/1900022374800188928","@type":"Project","projectIdentifier":[{"@type":"JGN","@value":"JPMJSP2136"}],"notation":[{"@language":"ja","@value":"未来を拓く博士人材育成のためのオープンプラットフォーム型教育システムの構築"},{"@language":"en","@value":"Open Platform Fostering System for Ph.D. students who will open up the Future"}]}],"dataSourceIdentifier":[{"@type":"IRDB","@value":"oai:irdb.nii.ac.jp:01211:0006217767"}]}