Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program.

Circulation. Genomic and precision medicine(2023)

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摘要
Here, we have demonstrated the importance of using multiple variant filtering strategies, as we detected additional genes when filtering variants based on their predicted deleteriousness, frequency, and presence on the most expressed isoforms. Our primary analyses did not identify new candidate loci; thus larger follow-up studies are needed to replicate the novel locus and to identify additional rare variation associated with venous thromboembolism.
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关键词
cardiovascular diseases,genetics,genome-wide association study,single nucleotide polymorphisms,venous thromboembolism,whole genome sequencing
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