Publications by authors named "J D Hardcastle"
FGFR1 fusions in genomically and epigenetically bona fide glioblastoma, IDH-wildtype.
J Neuropathol Exp Neurol
June 2025
EGFR transcript variants: Potential diagnostic biomarker for glioblastoma, IDH-wildtype?
J Neuropathol Exp Neurol
April 2025
A supervised learning method for classifying methylation disorders.
BMC Bioinformatics
February 2024
Article Synopsis
- DNA methylation is a key epigenetic change in humans, used as a biomarker in diagnosing various diseases, but current methods overlook age and sex-specific patterns.
- The study analyzed DNA methylation from blood samples of healthy individuals and patients with specific syndromes, introducing a Generalized Additive Model to assess 700,000 CpG sites while accounting for age and sex differences.
- The research achieved a high prediction accuracy of 0.96 in identifying abnormal methylation patterns, demonstrating the effectiveness of their custom machine learning pipeline for diagnosing potential congenital disorders.