Marcos Abreu Costa

This study combines monogenic and polygenic risk factors to predict disease progression in Fuchs endothelial corneal dystrophy, showing improved prediction when integrating both factors.

The paper uses optical genome mapping to analyze tissue-specific instability of the CTG18.1 triplet repeat in FECD, finding higher instability in corneal endothelial cells than in blood leukocytes.

The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.