2019
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
2017
Whole-exome sequencing in evaluation of patients with venous thromboembolism
Lee EJ, Dykas DJ, Leavitt AD, Camire RM, Ebberink E, García de Frutos P, Gnanasambandan K, Gu SX, Huntington JA, Lentz SR, Mertens K, Parish CR, Rezaie AR, Sayeski PP, Cromwell C, Bar N, Halene S, Neparidze N, Parker TL, Burns AJ, Dumont A, Yao X, Chaar CIO, Connors JM, Bale AE, Lee AI. Whole-exome sequencing in evaluation of patients with venous thromboembolism. Blood Advances 2017, 1: 1224-1237. PMID: 29296762, PMCID: PMC5728544, DOI: 10.1182/bloodadvances.2017005249.Peer-Reviewed Original ResearchWhole-exome sequencingVenous thromboembolismStudy patientsThrombophilia panelVTE patientsHeritable thrombophiliaThrombophilia testingDisease-causing genetic variantsEvaluation of patientsControl patientsThrombophilia mutationsProtein modelingThrombotic historyProtein structurePatientsThrombophilia genesVTE pathogenesisWES variantsUnknown significanceThrombophiliaGenetic variantsGenesPrior reportsSequencingThromboembolism