Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy.

ABSTRACT: The present study describes the genetic architecture of the isolated populations of Cilento, through the analysis of exome sequence data of 245 representative individuals of these populations. By annotating the exome variants and cataloguing them according to their frequency and functional effects, we identified 347,684 variants, 67.4% of which are rare and low frequency variants, and 1% of them (corresponding to 319 variants per person) are classified as high functional impact variants; also, 39,946 (11.5% of the total) are novel variants, for which we determined a significant enrichment for deleterious effects. By comparing the allele frequencies in Cilento with those from the Tuscan population from the 1000 Genomes Project Phase 3, we highlighted an increase in allele frequency in Cilen

SUBMITTER: Nutile T 

PROVIDER: S-EPMC6411969 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature