Laurence Gagnon

This study identifies rare genetic variants in a Quebec population with a founder effect, validates known variants, discovers new ones, and highlights their clinical relevance.

The paper highlights the importance of fine-scale population structure in genetic studies, showing that smaller cohorts with distinct structure have higher rare variant frequencies, aiding in new genetic variant discovery.

This paper uses genealogies to trace the demographic history of the Quebec founder population, revealing how regional founder effects shaped population structure and genetic diversity over time.