Rare diseases load through the study of a regional population.

ABSTRACT: Rare genetic diseases impact many people worldwide and are challenging to diagnose. In this study, we introduce a novel regional population cohort approach to identify pathogenic variants causing Mendelian diseases that occur more frequently within specific populations and are of clinical interest for carrier testing. We utilized a cohort from Quebec, including the Saguenay-Lac-Saint-Jean region, which is known for its founder effect followed by a rapid expansion and higher frequency of certain pathogenic variants. By analyzing both their frequency and origin through shared identical-by-descent segments, we identified founder variants. We calculated and compared their frequency in individuals originating from the Saguenay-Lac-Saint-Jean and from other urban Quebec regions. We validated 38

SUBMITTER: Michel E 

PROVIDER: S-EPMC12530595 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature