@article {Cocca022947, author = {Massimiliano Cocca and Marc Pybus and Pier Francesco Palamara and Erik Garrison and Michela Traglia and Cinzia F Sala and Sheila Ulivi and Yasin Memari and Anja Kolb-Kokocinski and Richard Durbin and Paolo Gasparini and Daniela Toniolo and Nicole Soranzo and Vincenza Colonna}, title = {Purging of deleterious variants in Italian founder populations with extended autozygosity}, elocation-id = {022947}, year = {2015}, doi = {10.1101/022947}, publisher = {Cold Spring Harbor Laboratory}, abstract = {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.}, URL = {https://www.biorxiv.org/content/early/2015/07/21/022947}, eprint = {https://www.biorxiv.org/content/early/2015/07/21/022947.full.pdf}, journal = {bioRxiv} }