Whole Exome Sequencing and Extended Thrombophilia Testing in Patients with Venous Thromboembolism

Conclusions: WES and extended thrombophilia testing reveal a high frequency of pathogenic or likely pathogenic variants or VUS in VTE patients compared to controls. These variants demonstrate good concordance with traditional laboratory-based thrombophilia testing. Several novel pathogenic or likely pathogenic variants were identified. In silico studies and protein modeling suggest that many VUS identified by this approach are likely to be deleterious to protein function. The results may underlie a strong genetic component to VTE. Next steps include further characterization of VUS using protein modeling, biochemical analysis, and epidemiological and familial studies to understand potential roles these variants may play in thrombosis.Table.DisclosuresCamire: Pfizer: Consultancy, Membership on an entity's Board of Directors or advisory committees, Research Funding; Spark Therapeutics: Membership on an entity's Board of Directors or advisory committees; Bayer: Consultancy.

Source: Blood - November 21, 2018 Category: Hematology Authors: Shevell, L. M., Lee, E.-J., Dhodapkar, R., Dykas, D., Popa, A., Ma, D., Bar, N., Baluha, A., Burns, A. J., Ochoa Chaar, C. I., Dupont, A., Gu, S., Halene, S., Luciano, R., Marien, R., Neparidze, N., Parker, T. L., Yao, X., Camire, R. M., Ebberink, E., Gar Tags: 331. Pathophysiology of Thrombosis: Poster II Source Type: research