Constructing a pipeline for genome variant / gene functioning hybrid prioritization: a case study of type II diabetes

Video (download) Irina Kolesnikova1, Valery Polunovsky2, Konstantin Gunbin31LLC NCGI, Novosibirsk, Russia, i.kolesnikova@mygenetics.ru2LLC NCGI, Novosibirsk, Russia, valeriy.polunovskiy@mygenetics.ru3ICG SB RAS, Novosibirsk, Russia; NSU, Novosibirsk, Russia, genkvg@bionet.nsc.ru According to recently proposed “omnigenic model” the genes implicated in complex diseases determination can be divided into core genes and peripheral genes. Mutations in core genes directly affect disease development, while mutations in peripheral genes can only indirectly modulate disease risk. In this study in order to discriminate core genes and their major regulators, we hierarchically combine genome variant prioritization with the prioritization of genes and target tissues.

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