Flavia M. Facio

CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions

The UCSC Genome Browser database: 2025 update

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

Motivators for participation in a whole-genome sequencing study: implications for translational genomics research