S. Thorn

Heterozygous germline MSH3 mutations, and probably MLH3 mutations, act as classical tumour suppressors, leading to excess somatic deletion mutations, signature ID4 and increased colorectal cancer risk

DUCK-Net: Automated deep learning segmentation of Ductular Reaction in murine liver injury captures multicellular niche dynamics from H&E morphology

This paper introduces DUCK-Net, a deep learning model for automated segmentation of Ductular Reactions in murine liver injury, showing high accuracy and correlation with spatial transcriptomic data.

Whole genome sequencing of endometrial cancer identifies novel subgroups, drivers, and actionable alterations

This study uses whole genome sequencing of endometrial cancers to identify novel subgroups, drivers, and actionable alterations, improving precision medicine approaches.

DNA methylation signatures of mismatch repair-deficient colorectal cancer

This study identifies DNA methylation differences between microsatellite stable and microsatellite instable colorectal cancers, revealing MLH1-independent markers of mismatch repair deficiency and the impact of anatomical location.

Germline haploinsufficiency for the base excision repair gene MUTYH causes mutational signature SBS18 in multiple tumour types, specifically leading to an increased risk of colorectal cancer

This study shows that germline MUTYH haploinsufficiency increases mutational signature SBS18 and CRC risk, but not other cancers, due to oxidative DNA damage in the colorectum.

Quantifying "just-right" APC inactivation for colorectal cancer initiation

The paper quantifies the tumorigenic effect of partial APC inactivation in colorectal cancer, finding it confers a 50-fold higher cancer progression risk than complete inactivation.

Performance of genetic imputation across commercial crop species

The paper demonstrates accurate genetic imputation in maize, sugar beet, and wheat without pedigrees, outperforming Beagle 5.1 in most scenarios.

Extending long-range phasing and haplotype library imputation algorithms to very large and heterogeneous datasets

This paper improves long-range phasing and haplotype library imputation algorithms to handle large and heterogeneous datasets, achieving high accuracy with reduced computational time.