Whole-Exome Sequencing in Evaluation of Thrombophilia: Characterization of Novel Genetic Variants
Gu S, Shevell L, Tormey C, Rinder H, Lee A. Whole-Exome Sequencing in Evaluation of Thrombophilia: Characterization of Novel Genetic Variants. American Journal Of Clinical Pathology 2019, 152: s35-s35. DOI: 10.1093/ajcp/aqz112.066.Peer-Reviewed Original ResearchWhole-exome sequencingMultiple sequence alignment analysisVenous thromboembolismGenetic variantsSequence alignment analysisDisease-causing genetic variantsVon Willebrand factorRegions of proteinsNovel genetic variantsNext-generation sequencing studiesAmino acid substitutionsGenetic factorsNovel VUSAlignment analysisMajority of VTESequencing studiesAcid substitutionsSilico mutagenesisConformational changesEvaluation of thrombophiliaDeep venous thrombosisNonsynonymous variantsProthrombin gene mutationFactor V LeidenEnzymatic activity