Marc‐Henri Stern

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.

Human PMS1-dependent non-canonical mismatch repair converges with MBD4 to repair 5-methylcytosine deamination

The paper shows that MBD4 and PMS1-dependent non-canonical MMR work together to repair 5mC deamination, contributing to genome stability.

Democratizing computational pathology: optimized Whole Slide Image representations for The Cancer Genome Atlas

This paper introduces Giga-SSL, a self-supervised method for learning Whole Slide Image representations from The Cancer Genome Atlas data, improving classification performance and enabling efficient analysis.

Multi-omics comparison of malignant and normal uveal melanocytes reveals novel molecular features of uveal melanoma.

The paper uses multi-omics analysis to compare malignant and normal uveal melanocytes, identifying genomic instability and a BAP1 promoter deletion as key features of uveal melanoma.

RAD51 promotes non-homologous genetic rearrangements that are prevented by 53BP1

The paper shows RAD51 and BRCA2 promote non-homologous genetic rearrangements, which are prevented by 53BP1, and links BRCA2 proficiency to increased non-homologous sequence capture in breast tumors.