Author

Jamie-Lee M. Thompson

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Open access Sep 2026

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

HeartVar demonstrates that an LLM constrained by a domain-specific prompt and grounded in structured evidence can produce variant interpretations of first-pass quality for a cardiovascular disease cohort; however, it is not intended to replace manual assessment by a qualified variant curator.

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