Publications

RetroFun-RVS: A retrospective family-based framework for rare variant analysis incorporating functional annotations

Auteurs : L. Mangnier, I. Ruczinski, J. Ricard, C. Moreau, S. Girard, M. Maziade, A. Bureau.

The researchers explored how rare genetic variations contribute to complex diseases, particularly those located in noncoding regions of the genome, which are difficult to interpret. They used data from the CARTaGENE cohort as controls along with other cohort data to develop and test a new method called RetroFun-RVS. This method helps identify disease-related rare genetic variants by analyzing how they are shared among family members with the same condition.