Using the ancestral recombination graph to study the history of rare variants in founder populations
Alejandro Mejía‐García, Alex Diaz-Papkovich, Guillaume Sillon, Daniela D’Agostino, Anne‐Laure Chong, George Chong, Ken Sin Lo, Laurence Baret, Nancy Hamel, Vincent Chapdelaine, William David Foulkes, Daniel Taliun, Adam J. Shapiro, Guillaume Lettre, Simon Gravel
This paper uses ancestral recombination graphs to impute and trace rare variants in founder populations, showing high accuracy in mutation age and regional frequency estimation.
bioRxiv · Mar 13, 2025 · PreprintGenetics