J. Louise Jones

DIANNeR improves detection of GR interactomes in normal tissues by integrating DIA, ion mobility, and library-free analysis, revealing context-specific networks and previously undetected interactions.

This study identifies CoAsy as a regulator of HIF signalling in TNBC, showing its loss stabilizes HIF-1 and HIF-2 and correlates with poor patient outcomes.

This study examines breast cancer differences between African, South Asian, and European ancestries, finding earlier onset, different tumor characteristics, and varied mutation patterns.

GenePy identifies potential missed biallelic diagnoses in the 100KGP by scoring variants and analyzing phenotypic overlaps, finding 14% of undiagnosed participants may have a missed diagnosis.

The paper introduces MuAt, a deep learning model that learns representations of somatic mutations to predict tumour types and subtypes with high accuracy.

The paper identifies novel Mendelian genes by analyzing mouse embryo lethality and linking them to human disease phenotypes and genetic variants.

The paper identifies an intermediate-effect variant in UMOD associated with chronic kidney disease risk and shows it has reduced disease severity compared to canonical ADTKD mutations.

This study uses whole-genome sequencing to identify regulatory and novel genic variants contributing to childhood cardiomyopathy.

The paper identifies gene-specific mutational signatures caused by replication errors and endogenous DNA damage using CRISPR-Cas9 knockouts and whole-genome sequencing.