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Irina Kolesnikova1, Valery Polunovsky2, Konstantin Gunbin3
1LLC NCGI, Novosibirsk, Russia, i.kolesnikova@mygenetics.ru
2LLC NCGI, Novosibirsk, Russia, valeriy.polunovskiy@mygenetics.ru
3ICG 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.