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Whole genome sequencing identifies pathogenic genetic variants in Han Chinese patients with familial venous thromboembolism

12 Apr 2025

Abstract excerpt

Genetic factors play a pivotal role in determining venous thromboembolism (VTE) risk, particularly in cases of unprovoked early-onset VTE and those with a family history. While genome-wide association studies (GWAS) has advanced our understanding, high-quality whole-genome sequencing (WGS) from family-based studies is essential to elucidate the role of rare variants. In this study, we performed WGS on 216...

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PMID: 40221599
DOI: 10.1038/s42003-025-07935-x

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