James M. Havrilla

Phen2Gene prioritizes genes based on HPO terms for rare diseases, outperforming existing tools in speed and accuracy for clinical diagnosis.

The paper identifies 103 novel epigenetic regulator disease candidates by analyzing co-expression patterns and loss-of-function intolerance in human epigenetic machinery genes.

The paper creates a detailed map of constrained coding regions in the human genome using variation data from 123,136 individuals, identifying regions under strong purifying selection and enriched for pathogenic variants.

SV-plaudit enables rapid manual curation of thousands of structural variants through a cloud-based framework with image visualization and collaborative reporting.