Next-generation sequencing strategies in venous thromboembolism: in whom and for what purpose?

David-Alexandre Trégouët; Pierre-Emmanuel Morange

doi:10.1016/j.jtha.2024.04.004

Next-generation sequencing strategies in venous thromboembolism: in whom and for what purpose?

J Thromb Haemost. 2024 Apr 18:S1538-7836(24)00218-6. doi: 10.1016/j.jtha.2024.04.004. Online ahead of print.

Authors

David-Alexandre Trégouët¹, Pierre-Emmanuel Morange²

Affiliations

¹ University of Bordeaux, Institut National de la Santé et de la Recherche Médicale, Bordeaux Population Health Research Center, Unité Mixte de Recherche 1219, Bordeaux, France. Electronic address: david-alexandre.tregouet@u-bordeaux.fr.
² Cardiovascular and Nutrition Research Center (Centre de Recherche en CardioVasculaire et Nutrition), Institut National de la Santé et de la Recherche Médicale, Institut National de Recherche pour l'agriculture, l' Alimentation et l'Environnement, Aix-Marseille University, Marseille, France.

PMID: 38641321
DOI: 10.1016/j.jtha.2024.04.004

Abstract

This invited review follows the oral presentation "To Sequence or Not to Sequence, That Is Not the Question; But 'When, Who, Which and What For?' Is" given during the State of the Art session "Translational Genomics in Thrombosis: From OMICs to Clinics" of the International Society on Thrombosis and Haemostasis 2023 Congress. Emphasizing the power of next-generation sequencing technologies and the diverse strategies associated with DNA variant analysis, this review highlights the unresolved questions and challenges in their implementation both for the clinical diagnosis of venous thromboembolism and in translational research.

Keywords: clinical diagnosis; next-generation sequencing; venous thromboembolism.

Publication types

Review