RT Journal Article SR Electronic T1 Purging of deleterious variants in Italian founder 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 Ulivi A1 Yasin Memari A1 Anja Kolb-Kokocinski A1 Richard Durbin A1 Paolo Gasparini A1 Daniela Toniolo A1 Nicole Soranzo A1 Vincenza Colonna YR 2015 UL http://biorxiv.org/content/early/2015/07/21/022947.abstract AB Purging through inbreeding defines the process through which deleterious alleles can be removed from populations by natural selection when exposed in homozygosis through the occurrence of consanguineous marriage. 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 depletion of homozygous genotypes at potentially detrimental sites in the founder populations compared to outbred populations and observe patterns consistent with consanguinity driving the accelerated purging of highly deleterious mutations.