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Updated: Aug 21, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders
Ana Díaz-de Usera1, Luis A Rubio-Rodríguez1, Adrián Muñoz-Barrera1
1Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), 38600 Granadilla de Abona, Spain.
Abstract:
The Canary Islanders exhibit a unique genetic admixture, comprising European (EUR), North African (NAF), and sub-Saharan African (SSA) ancestries. We comprehensively characterized the full spectrum of small genetic variation in this population based on whole-exome sequencing data to further develop CIRdb. Our results revealed 387,555 variants, of which 15.1% were previously unreported, and we prioritized novel putative pathogenic variants exhibiting enrichment in respiratory, cardiovascular, and metabolic disorders. Genetic differentiation patterns provided fine-grained insights into within-archipelago differentiation. We revealed an EUR genetic ancestry enrichment around the 17q21.31 inversion (a pleiotropic locus associated with pulmonary, infectious, and immunological diseases) and a candidate selective sweep shared by Canary Islanders and the NAF population around prune exopolyphosphatase 1 (PRUNE1) gene, which is associated with body mass index, cardiovascular health, and metabolic and respiratory traits. Taken together, our findings show that CIRdb presents a valuable resource of exome-wide genetic variation in a population at the edge of Southwestern European genetic diversity.
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