Fabienne Jabot‐Hanin

COBT is a gene-based rare variant burden test for case-only studies that outperforms existing methods and identifies novel candidate variants in rare diseases.

The paper identifies a regulatory variant driving microphthalmia by analyzing its effects in mouse models and linking it to FOXE3 expression and ocular development.

RfPred uses random forest to create a meta-score for predicting deleterious missense variants in human exomes, outperforming existing methods and providing pre-calculated scores for all non-synonymous SNPs.