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Open access Aug 2026

Genome-wide annotation of human multi-nucleotide variants reveals widespread functional differences from single nucleotide variants

Multi-nucleotide variants (MNVs) represent a crucial yet underexplored category of genetic variation. Despite previous studies highlighting the prevalence and potential biological impact of MNVs in populations, comprehensive identification and detailed functional annotation of MNVs remain challenging. Here, we develop...

Wei-Wei Jin, Wen Cao, Hao-Hui Luo et al. · 0 citations
Sep 2026

Genetic regulation of CPEB3-mediated alternative polyadenylation associated with survival of patients with hepatocellular carcinoma.

BACKGROUND Alternative polyadenylation (APA) is a key post-transcriptional mechanism that regulates gene expression by modulating 3'UTR length, its dysregulation has been implicated in carcinogenesis. How genetic variants influence APA to affect hepatocellular carcinoma (HCC) prognosis remains unclear. METHODS Progno...

Haoxue Wang, Shan-Shan Zhang, Chen-Hui Zhang et al. · 0 citations

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