{"created":"2023-11-08T01:39:09.291187+00:00","id":2000334,"links":{},"metadata":{"_buckets":{"deposit":"5fe21dc3-5734-4029-a07e-ee0617ae6d55"},"_deposit":{"created_by":42,"id":"2000334","owners":[42],"pid":{"revision_id":0,"type":"depid","value":"2000334"},"status":"published"},"_oai":{"id":"oai:kindai.repo.nii.ac.jp:02000334","sets":["14:2667:1697004343623"]},"author_link":[],"item_1693381679919":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"report","resourceuri":"http://purl.org/coar/resource_type/c_93fc"}]},"item_30001_bibliographic_information17":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicNumberOfPages":"5","bibliographic_titles":[{"bibliographic_title":"科学研究費助成事業研究成果報告書 (2022)","bibliographic_titleLang":"ja"}]}]},"item_30001_creator2":{"attribute_name":"研究代表者","attribute_type":"creator","attribute_value_mlt":[{"creatorAffiliations":[{"affiliationNameIdentifiers":[{"affiliationNameIdentifier":"34419","affiliationNameIdentifierScheme":"kakenhi"}],"affiliationNames":[{"affiliationName":"近畿大学","affiliationNameLang":"ja"},{"affiliationName":"Kindai University","affiliationNameLang":"en"}]}],"creatorNames":[{"creatorName":"飯田, 慶","creatorNameLang":"ja"},{"creatorName":"IIDA, Kei","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"00387961","nameIdentifierScheme":"e-Rad"}]}]},"item_30001_description8":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"遺伝子疾患の研究の進展やシークエンス技術の発展によりイントロン中に生じた変異が疾患の原因となっているケースの報告は増加してきている。イントロン中に生じた変異が成熟mRNAにどのような影響を与えるかについては、いまだに体系的理解に至っていない。本研究では、近年の発展の著しい人工知能（AI）技術を応用して、スプライシング制御の詳細を明らかにすること目指した。llumina社が開発したSpliceAIに対してExplainable AIシステムを構築し、個々の遺伝子におけるスプライシング制御に関わる塩基配列の同定や、それに基づく疾患関連スプライシング制御の解明を可能にした。","subitem_description_language":"ja","subitem_description_type":"Abstract"},{"subitem_description":"Due to progress in research on genetic diseases and development of sequencing technology, there are increasing reports of cases in which mutations occurring in introns cause diseases. We still do not have a systematic understanding of how mutations in introns affect mature mRNAs. In this study, we aimed to clarify the details of splicing control by applying artificial intelligence (AI) technology, which has been developing remarkably in recent years. We have constructed an Explainable AI system for SpliceAI developed by llumina, Inc., enabling the identification of nucleotide sequences involved in splicing control in individual genes and the elucidation of disease-related splicing control based on these.","subitem_description_language":"en","subitem_description_type":"Abstract"},{"subitem_description":"研究分野：情報生物学","subitem_description_language":"ja","subitem_description_type":"Other"}]},"item_30001_file22":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","filename":"20K07310seika.pdf","format":"application/pdf","mimetype":"application/pdf","url":{"url":"https://kindai.repo.nii.ac.jp/record/2000334/files/20K07310seika.pdf"},"version_id":"b8005d3c-1b19-45b3-b7fe-bbbd015b10a1"}]},"item_30001_funding_reference15":{"attribute_name":"助成情報","attribute_value_mlt":[{"subitem_award_numbers":{"subitem_award_number":"20K07310","subitem_award_uri":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-20K07310/"},"subitem_award_titles":[{"subitem_award_title":"スプライシング病克服を目指すRNA制御特化機械学習によるスプライシングコード解明","subitem_award_title_language":"ja"},{"subitem_award_title":"Elucidation of splicing-code with RNA-specialized machine learning system toward overcoming hereditary diseases having splicing misregulations","subitem_award_title_language":"en"}],"subitem_funder_names":[{"subitem_funder_name":"独立行政法人日本学術振興会","subitem_funder_name_language":"ja"},{"subitem_funder_name":"Japan Society for the Promotion of Science","subitem_funder_name_language":"en"}]}]},"item_30001_language10":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"item_30001_subject7":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"RNAスプライシング","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"人工知能","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"ケミカルバイオロジー","subitem_subject_language":"ja","subitem_subject_scheme":"Other"}]},"item_30001_title0":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"スプライシング病克服を目指すRNA制御特化機械学習によるスプライシングコード解明","subitem_title_language":"ja"},{"subitem_title":"Elucidation of splicing-code with RNA-specialized machine learning system toward overcoming hereditary diseases having splicing misregulations","subitem_title_language":"en"}]},"item_30001_version_type12":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_title":"スプライシング病克服を目指すRNA制御特化機械学習によるスプライシングコード解明","item_type_id":"40001","owner":"42","path":["1697004343623"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2023-11-08"},"publish_date":"2023-11-08","publish_status":"0","recid":"2000334","relation_version_is_last":true,"title":["スプライシング病克服を目指すRNA制御特化機械学習によるスプライシングコード解明"],"weko_creator_id":"42","weko_shared_id":-1},"updated":"2024-10-23T00:48:30.113058+00:00"}