A population-based resource for the prioritization of rare variants of unknown significance in clinical genomics

Rare diseases represent a major public health challenge because they are often associated with severe phenotypes, yet many causal variants remain undiscovered. Founder populations provide a unique opportunity to identify disease-causing variants through the local enrichment of rare alleles. Using whole-genome sequencing data from individuals in the Saguenay-Lac-Saint-Jean population, enriched variants were identified and their founder status was assessed through identity-by-descent sharing. Variant impact was evaluated using functional prediction tools without relying on prior clinical classif

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