{"id":1089,"date":"2025-10-30T23:00:00","date_gmt":"2025-10-30T23:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=cb9a589e1fcb9477d66b6544124b7430"},"modified":"2025-10-30T23:00:00","modified_gmt":"2025-10-30T23:00:00","slug":"enhanced-comprehension-of-the-pathogenicity-of-splicing-variants","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/30\/enhanced-comprehension-of-the-pathogenicity-of-splicing-variants\/","title":{"rendered":"Enhanced Comprehension of the Pathogenicity of Splicing Variants"},"content":{"rendered":"Despite the availability of various in silico prediction tools, accurately assessing the pathogenicity of splice-region variants remains limited. In this study, 18 splice-region variants of uncertain significance (VUSs) were functionally characterized using either in vitro (minigene) or in vivo (RT-PCR) experiments. The impacts of in-frame mutants on the indicated protein were further analyzed by modeling the three-dimensional protein structures. The accuracy of different in silico prediction tools (SpliceAI, varSEAK, and Splicing Prediction Pipeline) was also compared.","protected":false},"excerpt":{"rendered":"<p>Despite the availability of various in silico prediction tools, accurately assessing the pathogenicity of splice-region variants remains limited. In this study, 18 splice-region variants of uncertain significance (VUSs) were functionally characterized &#8230;<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,54],"tags":[55],"class_list":["post-1089","post","type-post","status-publish","format-standard","hentry","category-articulos","category-the-journal-of-molecular-diagnostics","tag-jmoldiagn"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1089","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=1089"}],"version-history":[{"count":25,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1089\/revisions"}],"predecessor-version":[{"id":1090,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1089\/revisions\/1090"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=1089"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=1089"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=1089"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}