American Journal of Human Genetics
Published December 6, 2018
This study presents an efficient method to infer transmission paths of rare genes through population-scale genealogies. Using a high-quality genealogical dataset of more than three million individuals related to the founding families of Quebec, researchers apply the method to reconstruct the transmission history of a rare recessive-gene disease. They identify the most likely early carriers of the mutation and geographically map the expected carrier rate in Quebec’s French-Canadian population today.

Corresponding author: Simon Gravel, McGill University –