Author

S. Dunwoodie

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Open access Sep 2026

HeartVar: An LLM-Assisted Tool for Clinical Classification of Variants in Cardiovascular Disease Cohorts

Manual clinical DNA variant classification is the bottleneck of every clinical and research rare disease workflow. The process typically requires a curator to assemble evidence from numerous databases, weigh 28 criteria, reconcile competing evidence, and produce a defensible case for the final classification. Additiona...

Jamie-Lee M. Thompson, Debjani Das, Sally L. Dunwoodie et al. · bioRxiv · 0 citations

Open access Jan 2026

Multiomic Investigation of Shared Genetic Pathways in Paediatric Congenital Heart Disease and Neurodevelopmental Disorders

DNA methylation analysis revealed epigenetic differences between CHD and NDD patients, with CHD patients showing elevated biological age acceleration and the findings highlight the diagnostic and mechanistic value of integrative multiomic profiling in paediatric developmental disease cohorts.

Jamie-Lee M. Thompson, Yun-Kai Gao, Eri Iwasawa et al. · Human Mutation · 0 citations