GeneticsPLoS GeneticsPeer-reviewed
Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score
Ozvan Bocher, Thomas E Ludwig, Marie‐Sophie C. Ogloblinsky…·Emmanuelle Génin
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.
12 citations