{"id":4111,"date":"2016-11-12T14:14:02","date_gmt":"2016-11-12T14:14:02","guid":{"rendered":"http:\/\/www.cytognomix.com\/?p=4111"},"modified":"2016-11-12T14:23:14","modified_gmt":"2016-11-12T14:23:14","slug":"november-12-2016-mutationforecaster-detects-mutations-that-alter-transcriptional-regulation","status":"publish","type":"post","link":"https:\/\/www.cytognomix.com\/?p=4111","title":{"rendered":"November 12, 2016. MutationForecaster detects mutations that alter transcriptional regulation"},"content":{"rendered":"<div><span style=\"font-family: arial, helvetica, sans-serif;\"><a title=\"Cytognomix\" href=\"http:\/\/www.cytognomix.com\" target=\"_blank\">Cytognomix<\/a>&#8216;s goal to enable complete gene or genome bioinformatic mutation interpretation for our customers and partners. We will be introducing multiple new types of mutation analyses to our\u00a0<a title=\"MutationForecaster\" href=\"http:\/\/www.mutationforecaster.com\" target=\"_blank\">MutationForecaster<\/a> product over the coming year.\u00a0<\/span><\/div>\n<div><\/div>\n<div><span style=\"font-family: arial, helvetica, sans-serif;\">We will be introducing a<strong> new type of mutation analysis to the MutationForecaster product<\/strong> next week. It will still use the Shannon pipeline framework to present results of genome-wide variant analysis, except that instead of splicing mutations. it will identify<em><strong> transcription factor binding site mutations in gene promoters<\/strong><\/em>.\u00a0<\/span><\/div>\n<div><span style=\"font-family: arial, helvetica, sans-serif;\">\u00a0<\/span><\/div>\n<div><span style=\"font-family: arial, helvetica, sans-serif;\">We have recently published 2 large patient-based studies where we have prioritized these and other types mutations for inherited breast cancer:<br \/>\n<\/span><\/div>\n<div style=\"padding-left: 30px;\"><span style=\"font-family: arial, helvetica, sans-serif;\">Caminsky<sup>\u00a0<\/sup>NG, Mucaki<sup>\u00a0<\/sup>EJ, Perri<sup>\u00a0<\/sup>AM,\u00a0Lu<sup>\u00a0<\/sup>R,\u00a0Knoll<sup>\u00a0<\/sup>JHM and Rogan PK. Prioritizing variants in complete Hereditary Breast and Ovarian Cancer (HBOC) genes in patients lacking known\u00a0<i>BRCA<\/i>\u00a0mutations. <a title=\"Caminsky et al\" href=\"http:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22972\/full\" target=\"_blank\" class=\"broken_link\">Human Mutation, 37:640-52<\/a>, 2016\u00a0<\/span><\/div>\n<div style=\"padding-left: 30px;\"><span style=\"font-family: arial, helvetica, sans-serif;\">\u00a0<\/span><\/div>\n<div style=\"padding-left: 30px;\"><span style=\"font-family: arial, helvetica, sans-serif;\">Mucaki, E*, Caminsky N*, Perri A, Lu R, Laederach A, Halvorsen, M, Knoll, JHM, Rogan PK. A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer, <a title=\"Mucaki et al.\" href=\"http:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-016-0178-5\" target=\"_blank\">BMC Medical Genomics, 9:19<\/a>, 2016.<br \/>\n<\/span><\/div>\n<div><span style=\"font-family: arial, helvetica, sans-serif;\">\u00a0<\/span><\/div>\n<div><span style=\"font-family: arial, helvetica, sans-serif;\">The information theory based models of these transcription factor binding sites have been validated by 4 different approaches. These are described in this article (<a href=\"http:\/\/www.cytognomix.com\/wp-content\/uploads\/2016\/10\/gkw1036.pdf\">link<\/a>), which will be published next week in the journal, <a title=\"NAR early access\" href=\"http:\/\/nar.oxfordjournals.org\/content\/early\/recent\" target=\"_blank\">Nucleic Acids Research<\/a>.\u00a0<\/span><\/div>\n<div><span style=\"font-family: arial, helvetica, sans-serif;\">\u00a0<\/span><\/div>\n<p><span style=\"font-family: arial, helvetica, sans-serif;\">\u00a0<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Cytognomix&#8216;s goal to enable complete gene or genome bioinformatic mutation interpretation for our customers and partners. We will be introducing multiple new types of mutation analyses to our\u00a0MutationForecaster product over the coming year.\u00a0 We will be introducing a new type of mutation analysis to the MutationForecaster product next week. It will still use the Shannon [&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":[],"_links":{"self":[{"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=\/wp\/v2\/posts\/4111"}],"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=4111"}],"version-history":[{"count":7,"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=\/wp\/v2\/posts\/4111\/revisions"}],"predecessor-version":[{"id":4118,"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=\/wp\/v2\/posts\/4111\/revisions\/4118"}],"wp:attachment":[{"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=4111"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=4111"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=4111"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}