Marie‐Sophie C. Ogloblinsky

PSAP-genomic-regions: a method leveraging population data to prioritize coding and non-coding variants in whole genome sequencing for rare disease diagnosis

PSAP-genomic-regions improves variant prioritization in whole genome sequencing by incorporating functional genomic regions, enhancing detection of both coding and non-coding pathogenic variants in rare disease diagnosis.

Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score

RAVA-FIRST improves rare variant association testing in whole-genome data by using functionally-informed testing units and filtering, identifying a novel intergenic region linked to venous thromboembolism.