{"id":10129,"date":"2020-06-29T09:36:52","date_gmt":"2020-06-29T09:36:52","guid":{"rendered":"https:\/\/bgrssb.icgbio.ru\/2020\/2020\/06\/29\/why-we-need-more-complex-gene-diagnostic-the-case-study-of-exome-from-patient-with-congenital-glaucoma\/"},"modified":"2020-06-29T09:36:52","modified_gmt":"2020-06-29T09:36:52","slug":"why-we-need-more-complex-gene-diagnostic-the-case-study-of-exome-from-patient-with-congenital-glaucoma","status":"publish","type":"post","link":"https:\/\/bgrssb.icgbio.ru\/2020\/2020\/06\/29\/why-we-need-more-complex-gene-diagnostic-the-case-study-of-exome-from-patient-with-congenital-glaucoma\/","title":{"rendered":"Why we need more complex gene diagnostic: the case study of exome from patient with congenital glaucoma"},"content":{"rendered":"<p>Video (<a href=\"https:\/\/bgrssb.icgbio.ru\/wp-content\/uploads\/2020\/07\/232.mp4\">download<\/a>)<br \/>\n    <br \/><div style=\"width: 640px;\" class=\"wp-video\"><!--[if lt IE 9]><script>document.createElement('video');<\/script><![endif]-->\n<video class=\"wp-video-shortcode\" id=\"video-10129-1\" width=\"640\" height=\"360\" preload=\"metadata\" controls=\"controls\"><source type=\"video\/mp4\" src=\"https:\/\/bgrssb.icgbio.ru\/wp-content\/uploads\/2020\/07\/232.mp4?_=1\" \/><a href=\"https:\/\/bgrssb.icgbio.ru\/wp-content\/uploads\/2020\/07\/232.mp4\">https:\/\/bgrssb.icgbio.ru\/wp-content\/uploads\/2020\/07\/232.mp4<\/a><\/video><\/div><\/p>\n<p>Dinara Ivanoshchuk<sup>1<\/sup>, Mikhail Voevoda<sup>2<\/sup>, Natalia Konovalova<sup>3<\/sup>, Konstantin Gunbin<sup>4<\/sup><br \/><sup>1<\/sup>ICG SB RAS, Novosibirsk, Russia, dinara@bionet.nsc.ru<br \/><sup>2<\/sup>ICG SB RAS, Novosibirsk, Russia, voevoda@bionet.nsc.ru<br \/><sup>3<\/sup>TSMA, Tumen, Russia, doctork@bk.ru<br \/><sup>4<\/sup>ICG SB RAS, Novosibirsk, Russia, genkvg@bionet.nsc.ru<\/p>\n<p>Usually, a detailed analysis of well-known diseases-related genes for the presence of pathogenic variants does not give any meaningful result, despite the good agreement between the patient\u0432\u0402\u2122s diagnosis and the available data on the mutations manifestation in these genes. This study, we try to disentangle such a cases using gene network aware exome analysis and variants prioritization.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Video (download) Dinara Ivanoshchuk1, Mikhail Voevoda2, Natalia Konovalova3, Konstantin Gunbin41ICG SB RAS, Novosibirsk, Russia, dinara@bionet.nsc.ru2ICG SB RAS, Novosibirsk, Russia, voevoda@bionet.nsc.ru3TSMA, Tumen, Russia, doctork@bk.ru4ICG SB RAS, Novosibirsk, Russia, genkvg@bionet.nsc.ru Usually, a detailed analysis of well-known diseases-related genes for the presence of pathogenic variants does not give any meaningful result, despite the good agreement between the patient\u0432\u0402\u2122s diagnosis and the available data on the mutations manifestation in these genes. This study, we try to disentangle such a cases using gene network aware exome analysis and variants prioritization.<\/p>\n","protected":false},"author":9,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[2165],"tags":[1630,1629,1508],"_links":{"self":[{"href":"https:\/\/bgrssb.icgbio.ru\/2020\/wp-json\/wp\/v2\/posts\/10129"}],"collection":[{"href":"https:\/\/bgrssb.icgbio.ru\/2020\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/bgrssb.icgbio.ru\/2020\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/bgrssb.icgbio.ru\/2020\/wp-json\/wp\/v2\/users\/9"}],"replies":[{"embeddable":true,"href":"https:\/\/bgrssb.icgbio.ru\/2020\/wp-json\/wp\/v2\/comments?post=10129"}],"version-history":[{"count":0,"href":"https:\/\/bgrssb.icgbio.ru\/2020\/wp-json\/wp\/v2\/posts\/10129\/revisions"}],"wp:attachment":[{"href":"https:\/\/bgrssb.icgbio.ru\/2020\/wp-json\/wp\/v2\/media?parent=10129"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/bgrssb.icgbio.ru\/2020\/wp-json\/wp\/v2\/categories?post=10129"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/bgrssb.icgbio.ru\/2020\/wp-json\/wp\/v2\/tags?post=10129"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}