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

• Published in: Journal of thrombosis and haemostasis Vol. 22; no. 7; pp. 1826 - 1834
• Main Authors: Trégouët, David-Alexandre, Morange, Pierre-Emmanuel
• Format: Journal Article
• Language: English
• Published: England Elsevier Inc 01.07.2024; Wiley
• Subjects: clinical diagnosis; Life Sciences; next-generation sequencing; Santé publique et épidémiologie; venous thromboembolism; clinical diagnosis; next-generation sequencing; venous thromboembolism; Clinical Diagnosis; Next-Generation Sequencing; Venous Thromboembolism
• ISSN: 1538-7836; 1538-7933; 1538-7836
• DOI: 10.1016/j.jtha.2024.04.004

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.