Jul 21, 2015

Purging of deleterious variants in Italian founder populations with extended autozygosity

BioRxiv : the Preprint Server for Biology
Massimiliano CoccaNicole Soranzo

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.

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Mentioned in this Paper

Genetic Drift
Study
Patterns
Genome
Site
Purging
Alleles
Genome Sequencing
Whole Genome Sequencing
Inbreeding

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