{"_buckets": {"deposit": "3e8e9994-d017-4608-b43d-1837be6959f6"}, "_deposit": {"id": "25688", "owners": [], "pid": {"revision_id": 0, "type": "depid", "value": "25688"}, "status": "published"}, "_oai": {"id": "oai:nagoya.repo.nii.ac.jp:00025688"}, "item_10_biblio_info_6": {"attribute_name": "\u66f8\u8a8c\u60c5\u5831", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2018-02", "bibliographicIssueDateType": "Issued"}, "bibliographicIssueNumber": "1", "bibliographicPageStart": "e1451", "bibliographicVolumeNumber": "9", "bibliographic_titles": [{"bibliographic_title": "Wiley Interdisciplinary Reviews: RNA"}]}]}, "item_10_description_4": {"attribute_name": "\u6284\u9332", "attribute_value_mlt": [{"subitem_description": "Development of next generation sequencing technologies has enabled detection of extensive arrays of germline and somatic single nucleotide variations (SNVs) in human diseases. SNVs affecting intronic GT\u2010AG dinucleotides invariably compromise pre\u2010mRNA splicing. Most exonic SNVs introduce missense/nonsense codons, but some affect auxiliary splicing cis\u2010elements or generate cryptic GT\u2010AG dinucleotides. Similarly, most intronic SNVs are silent, but some affect canonical and auxiliary splicing cis\u2010elements or generate cryptic GT\u2010AG dinucleotides. However, prediction of the splicing effects of SNVs is challenging. The splicing effects of SNVs generating cryptic AG or disrupting canonical AG can be inferred from the AG\u2010scanning model. Similarly, the splicing effects of SNVs affecting the first nucleotide G of an exon can be inferred from AG\u2010dependence of the 3\u2032 splice site (ss). A variety of tools have been developed for predicting the splicing effects of SNVs affecting the 5\u2032 ss, as well as exonic and intronic splicing enhancers/silencers. In contrast, only two tools, the Human Splicing Finder and the SVM\u2010BP finder, are available for predicting the position of the branch point sequence. Similarly, IntSplice and Splicing based Analysis of Variants (SPANR) are the only tools to predict the splicing effects of intronic SNVs. The rules and tools introduced in this review are mostly based on observations of a limited number of genes, and no rule or tool can ensure 100% accuracy. Experimental validation is always required before any clinically relevant conclusions are drawn. Development of efficient tools to predict aberrant splicing, however, will facilitate our understanding of splicing pathomechanisms in human diseases.", "subitem_description_type": "Abstract"}]}, "item_10_description_5": {"attribute_name": "\u5185\u5bb9\u8a18\u8ff0", "attribute_value_mlt": [{"subitem_description": "\u30d5\u30a1\u30a4\u30eb\u516c\u958b\uff1a2019-02-01", "subitem_description_type": "Other"}]}, "item_10_publisher_32": {"attribute_name": "\u51fa\u7248\u8005", "attribute_value_mlt": [{"subitem_publisher": "Wiley"}]}, "item_10_relation_11": {"attribute_name": "DOI", "attribute_value_mlt": [{"subitem_relation_type_id": {"subitem_relation_type_id_text": "https://doi.org/10.1002/wrna.1451", "subitem_relation_type_select": "DOI"}}]}, "item_10_rights_12": {"attribute_name": "\u6a29\u5229", "attribute_value_mlt": [{"subitem_rights": "\"This is the peer reviewed version of the following article: [Ohno, K. , Takeda, J. and Masuda, A. (2018), Rules and tools to predict the splicing effects of exonic and intronic mutations. WIREs RNA, 9: e1451. doi:10.1002/wrna.1451], which has been published in final form at [http://doi.org/10.1002/wrna.1451]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.\" "}]}, "item_10_select_15": {"attribute_name": "\u8457\u8005\u7248\u30d5\u30e9\u30b0", "attribute_value_mlt": [{"subitem_select_item": "author"}]}, "item_10_source_id_7": {"attribute_name": "ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "17577004", "subitem_source_identifier_type": "ISSN"}]}, "item_creator": {"attribute_name": "\u8457\u8005", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "Ohno, Kinji"}], "nameIdentifiers": [{"nameIdentifier": "76056", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Takeda, Jun-ichi"}], "nameIdentifiers": [{"nameIdentifier": "76057", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Masuda, Akio"}], "nameIdentifiers": [{"nameIdentifier": "76058", "nameIdentifierScheme": "WEKO"}]}]}, "item_files": {"attribute_name": "\u30d5\u30a1\u30a4\u30eb\u60c5\u5831", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2019-02-01"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "WIREsReviewforRepository.pdf", "filesize": [{"value": "461.9 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 461900.0, "url": {"label": "WIREsReviewforRepository", "url": "https://nagoya.repo.nii.ac.jp/record/25688/files/WIREsReviewforRepository.pdf"}, "version_id": "2fb3a2b5-4f39-4cfe-91fc-ca4c169a80c4"}]}, "item_language": {"attribute_name": "\u8a00\u8a9e", "attribute_value_mlt": [{"subitem_language": "eng"}]}, "item_resource_type": {"attribute_name": "\u8cc7\u6e90\u30bf\u30a4\u30d7", "attribute_value_mlt": [{"resourcetype": "journal article", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "Rules and tools to predict the splicing effects of exonic and intronic mutations", "item_titles": {"attribute_name": "\u30bf\u30a4\u30c8\u30eb", "attribute_value_mlt": [{"subitem_title": "Rules and tools to predict the splicing effects of exonic and intronic mutations"}]}, "item_type_id": "10", "owner": "1", "path": ["499/500/501"], "permalink_uri": "http://hdl.handle.net/2237/00027899", "pubdate": {"attribute_name": "\u516c\u958b\u65e5", "attribute_name_i18n": "\u516c\u958b\u65e5", "attribute_value": "2018-04-16"}, "publish_date": "2018-04-16", "publish_status": "0", "recid": "25688", "relation": {}, "relation_version_is_last": true, "title": ["Rules and tools to predict the splicing effects of exonic and intronic mutations"], "weko_shared_id": null}