Oscar Flórez-Vargas

The paper identifies functional variants and VNTRs at the 5p15.33 locus using fine-mapping, MPRA, and CRISPRi screens, revealing their role in cancer susceptibility through antagonistic pleiotropy.

This study identifies VNTR6-1 and rs10069690 as regulators of TERT splicing and expression, influencing cancer risk and telomere dynamics through altered telomerase isoform ratios.

The paper identifies a Neandertal introgressed haplotype in the OAS1 gene associated with increased risk of severe COVID-19 and shows it impairs SARS-CoV-2 clearance through genetic regulation of OAS1 expression.

This study finds that genetic variants affecting IFN-λ4 production are linked to increased risk and earlier occurrence of gastrointestinal, respiratory, and malaria infections in Malian children.

The paper shows that alternative splicing of APOBEC3B generates mutagenic and non-mutagenic isoforms, with implications for bladder cancer progression and therapeutic targeting.

The paper identifies a novel primate-specific ACE2 isoform, dACE2, which is an interferon-stimulated gene but not functional for SARS-CoV-2 entry.