Ludmila Prokunina‐Olsson

Integrative screening identifies functional variants and VNTRs underlying GWAS signals at the 5p15.33 multi-cancer susceptibility locus

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.

Genetic regulation of TERT splicing contributes to reduced or elevated cancer risk by altering cellular longevity and replicative potential

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.

Genetic regulation of OAS1 nonsense-mediated decay underlies association with risk of severe COVID-19

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.

IFN-{lambda}4 is associated with increased risk and earlier occurrence of gastrointestinal, respiratory and malarial infections in Malian children

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.

Isoform-specific characterization implicates alternative splicing in APOBEC3B as a mechanism restricting APOBEC-mediated mutagenesis

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

Interferons and viruses induce a novel primate-specific isoform dACE2 and not the SARS-CoV-2 receptor ACE2

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

Immune gene expression profiling reveals heterogeneity in luminal breast tumors

The paper identifies three immune subtypes in luminal breast cancer through immune gene expression profiling and links them to distinct genomic and clinical features.