{"created":"2025-02-21T04:07:51.554982+00:00","id":2007940,"links":{},"metadata":{"_buckets":{"deposit":"91fbb496-12aa-4788-b6cd-7e8f6d1c26bc"},"_deposit":{"created_by":41,"id":"2007940","owners":[41],"pid":{"revision_id":0,"type":"depid","value":"2007940"},"status":"published"},"_oai":{"id":"oai:hiroshima.repo.nii.ac.jp:02007940","sets":["1730444907710"]},"author_link":[],"item_1617186331708":{"attribute_name":"Title","attribute_value_mlt":[{"subitem_title":"Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients","subitem_title_language":"en"}]},"item_1617186419668":{"attribute_name":"Creator","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Hagiwara, Koichi","creatorNameLang":"en"}],"familyNames":[{"familyName":"Hagiwara","familyNameLang":"en"}],"givenNames":[{"givenName":"Koichi","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Morino, Hiroyuki","creatorNameLang":"en"}],"familyNames":[{"familyName":"Morino","familyNameLang":"en"}],"givenNames":[{"givenName":"Hiroyuki","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Shiihara, Jun","creatorNameLang":"en"}],"familyNames":[{"familyName":"Shiihara","familyNameLang":"en"}],"givenNames":[{"givenName":"Jun","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Tanaka, Tomoaki","creatorNameLang":"en"}],"familyNames":[{"familyName":"Tanaka","familyNameLang":"en"}],"givenNames":[{"givenName":"Tomoaki","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Miyazawa, Hitoshi","creatorNameLang":"en"}],"familyNames":[{"familyName":"Miyazawa","familyNameLang":"en"}],"givenNames":[{"givenName":"Hitoshi","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Suzuki, Tomoko","creatorNameLang":"en"}],"familyNames":[{"familyName":"Suzuki","familyNameLang":"en"}],"givenNames":[{"givenName":"Tomoko","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Kohda, Masakazu","creatorNameLang":"en"}],"familyNames":[{"familyName":"Kohda","familyNameLang":"en"}],"givenNames":[{"givenName":"Masakazu","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Okazaki, Yasushi","creatorNameLang":"en"}],"familyNames":[{"familyName":"Okazaki","familyNameLang":"en"}],"givenNames":[{"givenName":"Yasushi","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Seyama, Kuniaki","creatorNameLang":"en"}],"familyNames":[{"familyName":"Seyama","familyNameLang":"en"}],"givenNames":[{"givenName":"Kuniaki","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Kawakami, Hideshi","creatorNameLang":"en"}],"familyNames":[{"familyName":"Kawakami","familyNameLang":"en"}],"givenNames":[{"givenName":"Hideshi","givenNameLang":"en"}]}]},"item_1617186476635":{"attribute_name":"Access Rights","attribute_value_mlt":[{"subitem_access_right":"open access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_abf2"}]},"item_1617186499011":{"attribute_name":"Rights","attribute_value_mlt":[{"subitem_rights":"(c) 2011 Hagiwara et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited."}]},"item_1617186609386":{"attribute_name":"Subject","attribute_value_mlt":[{"subitem_subject":"490","subitem_subject_scheme":"NDC"}]},"item_1617186626617":{"attribute_name":"Description","attribute_value_mlt":[{"subitem_description":"Genes involved in disease that are not common are often difficult to identify; a method that pinpoints them from a small number of unrelated patients will be of great help. In order to establish such a method that detects recessive genes identical-by-descent, we modified homozygosity mapping (HM) so that it is constructed on the basis of homozygosity haplotype (HM on HH) analysis. An analysis using 6 unrelated patients with Siiyama-type alpha 1-antitrypsin deficiency, a disease caused by a founder gene, the correct gene locus was pinpointed from data of any 2 patients (length: 1.2-21.8 centimorgans, median: 1.6 centimorgans). For a test population in which these 6 patients and 54 healthy subjects were scrambled, the approach accurately identified these 6 patients and pinpointed the locus to a 1.4-centimorgan fragment. Analyses using synthetic data revealed that the analysis works well for IBD fragment derived from a most recent common ancestor (MRCA) who existed less than 60 generations ago. The analysis is unsuitable for the genes with a frequency in general population more than 0.1. Thus, HM on HH analysis is a powerful technique, applicable to a small number of patients not known to be related, and will accelerate the identification of disease-causing genes for recessive conditions.","subitem_description_language":"en"}]},"item_1617186643794":{"attribute_name":"Publisher","attribute_value_mlt":[{"subitem_publisher":"Public Library of Science"}]},"item_1617186702042":{"attribute_name":"Language","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_1617186920753":{"attribute_name":"Source Identifier","attribute_value_mlt":[{"subitem_source_identifier":"1932-6203","subitem_source_identifier_type":"ISSN"}]},"item_1617187024783":{"attribute_name":"Page Start","attribute_value_mlt":[{"subitem_start_page":"e25059"}]},"item_1617187056579":{"attribute_name":"Bibliographic Information","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2011","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"9","bibliographicPageStart":"e25059","bibliographicVolumeNumber":"6","bibliographic_titles":[{"bibliographic_title":"PLoS ONE"},{"bibliographic_title":"PLoS ONE"}]}]},"item_1617258105262":{"attribute_name":"Resource Type","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_1617265215918":{"attribute_name":"Version Type","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_1617353299429":{"attribute_name":"Relation","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"10.1371/journal.pone.0025059","subitem_relation_type_select":"DOI"}},{"subitem_relation_type_id":{"subitem_relation_type_id_text":"http://dx.doi.org/10.1371/journal.pone.0025059","subitem_relation_type_select":"DOI"}}]},"item_1617605131499":{"attribute_name":"File","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2023-03-18"}],"displaytype":"simple","filename":"PLoS-One_6_e25059.pdf","filesize":[{"value":"736.0 KB"}],"mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://hiroshima.repo.nii.ac.jp/record/2007940/files/PLoS-One_6_e25059.pdf"},"version_id":"27b2e49f-b7a8-4668-bbac-c65ea4d720ed"}]},"item_1732771732025":{"attribute_name":"旧ID","attribute_value":"34771"},"item_title":"Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients","item_type_id":"40003","owner":"41","path":["1730444907710"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2023-03-18"},"publish_date":"2023-03-18","publish_status":"0","recid":"2007940","relation_version_is_last":true,"title":["Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients"],"weko_creator_id":"41","weko_shared_id":-1},"updated":"2025-02-22T02:55:57.907539+00:00"}