PT  - JOURNAL ARTICLE
AU  - Massimiliano Cocca
AU  - Marc Pybus
AU  - Pier Francesco Palamara
AU  - Erik Garrison
AU  - Michela Traglia
AU  - Cinzia F Sala
AU  - Sheila Ulivi
AU  - Yasin Memari
AU  - Anja Kolb-Kokocinski
AU  - Richard Durbin
AU  - Paolo Gasparini
AU  - Daniela Toniolo
AU  - Nicole Soranzo
AU  - Vincenza Colonna
TI  - Purging of deleterious variants in Italian founder populations with extended autozygosity
AID  - 10.1101/022947
DP  - 2015 Jan 01
TA  - bioRxiv
PG  - 022947
4099  - http://biorxiv.org/content/early/2015/07/21/022947.short
4100  - http://biorxiv.org/content/early/2015/07/21/022947.full
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.