RT Journal Article SR Electronic T1 Purging of deleterious variants due to drift and founder effect in Italian populations with extended autozygosity JF bioRxiv FD Cold Spring Harbor Laboratory SP 022947 DO 10.1101/022947 A1 Massimiliano Cocca A1 Marc Pybus A1 Pier Francesco Palamara A1 Erik Garrison A1 Michela Traglia A1 Cinzia F Sala A1 Sheila Uiivi A1 Yasin Memari A1 Anja Kolb-Kokocinski A1 Shane McCarthy A1 Richard Durbin A1 Paolo Gasparini A1 Daniela Toniolo A1 Nicole Soranzo A1 Vincenza Colonna YR 2015 UL http://biorxiv.org/content/early/2015/10/12/022947.abstract AB Purging through inbreeding occurs when consanguineous marriages increases the rate at which deleterious alleles are present in a homozygous state. In this study we carried out low-read depth (4-10x) whole-genome sequencing in 568 individuals from three Italian founder populations, and compared it to data from other Italian and European populations from the 1000 Genomes Project. We show extended consanguinity and depletion of homozygous genotypes at potentially detrimental sites in the founder populations compared to outbred populations. However these patterns are not compatible with the hypothesis of consanguinity driving the purging of highly deleterious mutations according to simulations. Therefore we conclude that genetic drift and the founder effect should be responsible for the observed purging of deleterious variants.