RetroFun-RVS: A retrospective family-based framework for rare variant analysis incorporating functional annotations
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.
Deep genealogical analysis of a large cohort of participants in the CARTaGENE project (Quebec, Canada)
L’objectif principal de cette étude était de reconstruire, d’analyser et de comparer les généalogies ascendantes des participants à CARTaGENE. Les auteurs ont découvert 5 110 généalogies déjà construites provenant de quatre régions du Québec. Ils ont pu retracer des ancêtres en remontant au 17e siècle.