{"id":4670,"date":"2019-09-08T16:34:57","date_gmt":"2019-09-08T16:34:57","guid":{"rendered":"http:\/\/www.cytognomix.com\/?p=4670"},"modified":"2019-09-08T16:35:55","modified_gmt":"2019-09-08T16:35:55","slug":"sept-7-pan-cancer-article-and-database-update","status":"publish","type":"post","link":"https:\/\/www.cytognomix.com\/?p=4670","title":{"rendered":"Sept. 7, 2019. Pan cancer article and database update"},"content":{"rendered":"<div class=\"gs\">\n<div class=\"\">\n<div id=\":29v\" class=\"ii gt adO\">\n<div id=\":29u\" class=\"a3s aXjCH \">\n<div dir=\"auto\">\n<div class=\"gmail_quote\" dir=\"auto\">\n<div dir=\"ltr\">\n<div class=\"gmail_default\">\n<div>We have published another revision to our pan-cancer splicing mutation database\u00a0 paper:\u00a0Shirley BC, Mucaki EJ and Rogan PK. Pan-cancer repository of validated natural and cryptic mRNA splicing mutations\u00a0<i>F1000Research<\/i>\u00a02019,\u00a0<b>7<\/b>:1908 (<a href=\"https:\/\/f1000research.com\/articles\/7-1908\/v3\" target=\"_blank\" rel=\"noopener noreferrer\" data-saferedirecturl=\"https:\/\/www.google.com\/url?q=https:\/\/f1000research.com\/articles\/7-1908\/v3&amp;source=gmail&amp;ust=1568046589019000&amp;usg=AFQjCNFX-EWbhhRYT2_srW9HTzJF5bzB0g\">https:\/\/f1000research.<wbr \/>com\/articles\/7-1908\/v3<\/a>). The paper is already indexed in PubMed.<\/div>\n<div><\/div>\n<div>In this version, we derive a simplified variant classification scheme with\u00a0 ClinVar designations calibrated to the molecular phenotypes of mRNA splicing mutations. These are now indicated in the ValidspliceMut (<a href=\"https:\/\/validsplicemut.cytognomix.com\/\" target=\"_blank\" rel=\"noopener noreferrer\" data-saferedirecturl=\"https:\/\/www.google.com\/url?q=https:\/\/validsplicemut.cytognomix.com&amp;source=gmail&amp;ust=1568046589019000&amp;usg=AFQjCNG1M-p05pOHW0njgSPL7MZlb5m2Yw\">https:\/\/validsplicemut.<wbr \/>cytognomix.com<\/a>) query results. The majority of variants cause aberrant splicing or are likely aberrant.<span class=\"gmail_default\">\u00a0Interestingly, a\u00a0significant fraction of variants that have the same information, expression, population frequency properties as ClinVar variants designated as &#8220;benign&#8221; cause allele-specific alternative splicing.<\/span><\/div>\n<div class=\"yj6qo ajU\">\n<div id=\":2aa\" class=\"ajR\" tabindex=\"0\" role=\"button\" data-tooltip=\"Show trimmed content\" aria-label=\"Show trimmed content\" aria-expanded=\"false\"><img class=\"ajT\" src=\"https:\/\/ssl.gstatic.com\/ui\/v1\/icons\/mail\/images\/cleardot.gif\" \/><\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<div class=\"hi\">\n<div id=\"attachment_4672\" style=\"width: 790px\" class=\"wp-caption alignleft\"><a href=\"http:\/\/www.cytognomix.com\/?attachment_id=4672#main\" rel=\"attachment wp-att-4672\"><img aria-describedby=\"caption-attachment-4672\" loading=\"lazy\" class=\"wp-image-4672\" src=\"http:\/\/www.cytognomix.com\/wp-content\/uploads\/2019\/09\/669e3c40-1493-423c-bcf7-340f753f3530_figure1.gif\" alt=\"\" width=\"780\" height=\"894\" \/><\/a><p id=\"caption-attachment-4672\" class=\"wp-caption-text\">Figure 1 of Pan-cancer repository of validated natural and cryptic mRNA splicing mutations. F1000Research 2019, 7:1908<\/p><\/div>\n<\/div>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>We have published another revision to our pan-cancer splicing mutation database\u00a0 paper:\u00a0Shirley BC, Mucaki EJ and Rogan PK. Pan-cancer repository of validated natural and cryptic mRNA splicing mutations\u00a0F1000Research\u00a02019,\u00a07:1908 (https:\/\/f1000research.com\/articles\/7-1908\/v3). The paper is already indexed in PubMed. In this version, we derive a simplified variant classification scheme with\u00a0 ClinVar designations calibrated to the molecular phenotypes of [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":[],"categories":[6],"tags":[170,120,127,130,173,129,174,163],"_links":{"self":[{"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=\/wp\/v2\/posts\/4670"}],"collection":[{"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=4670"}],"version-history":[{"count":2,"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=\/wp\/v2\/posts\/4670\/revisions"}],"predecessor-version":[{"id":4674,"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=\/wp\/v2\/posts\/4670\/revisions\/4674"}],"wp:attachment":[{"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=4670"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=4670"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=4670"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}