Why we need more complex gene diagnostic: the case study of exome from patient with congenital glaucoma

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Dinara Ivanoshchuk¹, Mikhail Voevoda², Natalia Konovalova³, Konstantin Gunbin^4
1ICG SB RAS, Novosibirsk, Russia, dinara@bionet.nsc.ru
²ICG SB RAS, Novosibirsk, Russia, voevoda@bionet.nsc.ru
³TSMA, Tumen, Russia, doctork@bk.ru
⁴ICG 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’s 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.