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 |
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Hauptverfasser: | , , , , , , , , , , , , , , , , |
Format: | Artikel |
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 |
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ISSN: | 1538-7836 1538-7836 |
DOI: | 10.1016/j.jtha.2024.12.006 |