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• W3209845190 abstract "Human populations are genetically affected by their demographic history, which shapes the distribution of their functional genomic variation. However, the genetic impact of recent demography is debated. This issue has been studied in different populations, but never in North Africans, despite their relevant cultural and demographic diversity. In this study we address the question by analyzing new whole-exome sequences from two culturally different Tunisian populations, an isolated Amazigh population and a close non-isolated Arab-speaking population, focusing on the distribution of functional variation. Both populations present clear differences in their variant frequency distribution, in general and for putatively damaging variation. This suggests a relevant effect in the Amazigh population of genetic isolation, drift, and inbreeding, pointing to relaxed purifying selection. We also discover the enrichment in Imazighen of variation associated to specific diseases or phenotypic traits, but the scarce genetic and biomedical data in the region limits further interpretation. Our results show the genomic impact of recent demography and reveal a clear genetic differentiation probably related to culture. These findings highlight the importance of considering cultural and demographic heterogeneity within North Africa when defining population groups, and the need for more data to improve knowledge on the region's health and disease landscape." @default.
• W3209845190 created "2021-11-08" @default.
• W3209845190 creator A5017652236 @default.
• W3209845190 creator A5037497833 @default.
• W3209845190 creator A5054847726 @default.
• W3209845190 creator A5060654220 @default.
• W3209845190 creator A5062966267 @default.
• W3209845190 date "2021-10-26" @default.
• W3209845190 modified "2023-09-26" @default.
• W3209845190 title "Whole-exome analysis in Tunisian Imazighen and Arabs shows the impact of demography in functional variation" @default.
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