Assessment of a next generation sequencing gene panel strategy in 133 patients with negative thrombophilia screening

Although heritability of venous thromboembolism (VTE) is high, the thrombophilia screening appears to be positive only in a minority of VTE patients. Adding rare variants screening to identify VTE missing heritability still requires further assessment. We report the results of a panel strategy after...

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Veröffentlicht in:Journal of thrombosis and haemostasis 2024-12
Hauptverfasser: Suchon, Pierre, Soukarieh, Omar, Bernard, Clara, Mariotti, Antoine, Ernest, Vincent, Barthet, Marie-Christine, Saut, Noémie, Theron, Alexandre, Biron-Andréani, Christine, Daniel, Mélanie Y., Catella, Judith, Rohrlich, Pierre-Simon, Blanc-Jouvan, Florence, Le Cam Duchez, Véronique, Dari, Loubna, Trégouët, David-Alexandre, Morange, Pierre-Emmanuel
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Sprache:eng
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Zusammenfassung:Although heritability of venous thromboembolism (VTE) is high, the thrombophilia screening appears to be positive only in a minority of VTE patients. Adding rare variants screening to identify VTE missing heritability still requires further assessment. We report the results of a panel strategy after 3 years of application. We performed the sequencing of 28 genes related to coagulation cascade and/or VTE using high-throughput sequencing in133 unrelated patients with a personal history of VTE and negative thrombophilia screening. Only variants with minor allele frequency
ISSN:1538-7836
1538-7836
DOI:10.1016/j.jtha.2024.12.006