{"created":"2024-11-22T06:54:25.193414+00:00","id":2008342,"links":{},"metadata":{"_buckets":{"deposit":"1fd3e3c6-8770-46bd-9f0f-2bb7fbf898dd"},"_deposit":{"created_by":7,"id":"2008342","owners":[7],"pid":{"revision_id":0,"type":"depid","value":"2008342"},"status":"published"},"_oai":{"id":"oai:tokushima-u.repo.nii.ac.jp:02008342","sets":["1713829974766:1713854681789:1716364513953:1716365231035","1713853213384:1713853295607"]},"author_link":["190","686","444","435","796","1631","192","968","536","195"],"item_10001_alternative_title_1":{"attribute_name":"タイトル別表記","attribute_value_mlt":[{"subitem_alternative_title":"NGS utility for diagnosis of MCA/ID","subitem_alternative_title_language":"en"}]},"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2020-08","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"3-4","bibliographicPageEnd":"249","bibliographicPageStart":"246","bibliographicVolumeNumber":"67","bibliographic_titles":[{"bibliographic_title":"The Journal of Medical Investigation","bibliographic_titleLang":"en"}]}]},"item_10001_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Background : In clinical practice, a large proportion of patients with multiple congenital anomalies and/or intellectual disabilities (MCA/ID) lacks a specific diagnosis. Recently, next-generation sequencing (NGS) has become an efficient strategy for genetic diagnosis of patients with MCA/ID. Objective : To review the utility of NGS for the diagnosis of patients with MCA/ID. Method : Patients with MCA/ID were recruited between 2013 and 2017. Molecular diagnosis was performed using NGS-based targeted panel sequencing for 4,813 genes. Promising causative variants underwent confirmation by Sanger sequencing or chromosomal microarray. Results : Eighteen patients with MCA/ID were enrolled in this study. Of them, 8 cases (44%) were diagnosed by targeted panel sequencing. Most of diagnosed patients were able to receive better counseling and more appropriate medical management. Conclusion : NGS-based targeted panel sequencing seems to be an effective testing strategy for diagnosis of patients with MCA/ID.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Tokushima University Faculty of Medicine","subitem_publisher_language":"en"}]},"item_10001_source_id_9":{"attribute_name":"収録物ID","attribute_value_mlt":[{"subitem_source_identifier":"13496867","subitem_source_identifier_type":"ISSN"},{"subitem_source_identifier":"13431420","subitem_source_identifier_type":"ISSN"},{"subitem_source_identifier":"AA11166929","subitem_source_identifier_type":"NCID"}]},"item_10001_version_type_20":{"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_1715043197608":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open 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