Himanshu Goel

Calibrating Evidence from Negative DNA Methylation Episignatures

Background/Objectives: DNA methylation episignatures can inform variant interpretation, but the strength of evidence provided by a negative result depends on sensitivity and its uncertainty. We examined how published cohort sizes and independent performance data constrain benign...

AI-Guided Systems Neurogenomics in Neurodevelopmental Disorders

Despite substantial advances in genomic testing, many individuals with neurodevelopmental disorders remain without a molecular diagnosis, while others receive a genetic diagnosis that does not fully explain phenotypic variability, developmental trajectory or tissue-specific conse...