Purging of deleterious variants due to drift and founder effect in Italian populations with extended autozygosity
Massimiliano Cocca, Marc Pybus, Pier Francesco Palamara, Erik Garrison, Michela Traglia, Cinzia F Sala, Sheila Uiivi, Yasin Memari, Anja Kolb-Kokocinski, Shane McCarthy, Richard Durbin, Paolo Gasparini, Daniela Toniolo, Nicole Soranzo, Vincenza Colonna
The paper analyzes whole-genome sequencing data from Italian founder populations to determine the cause of purging of deleterious variants, concluding that genetic drift and founder effect, not consanguinity, are responsible.
bioRxiv · Oct 12, 2015 · PreprintEvolutionary Biology