Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders

iScience 2026 Open access

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Authors: Ana Díaz-de Usera, Luis A. Rubio‐Rodríguez, Adrián Muñoz‐Barrera, Jose Miguel Lorenzo-Salazar, Beatriz Guillén‐Guío, David Jáspez, Almudena Corrales, Itahisa Marcelino-Rodríguez, María del Cristo Rodríguez-Pérez, Antonio Cabrera de León, Rafaela González‐Montelongo, Raquel Cruz
+2 more Ángel Carracedo, Carlos Flores
DOI: 10.1016/j.isci.2026.117146
Cited by: 0
References: 85

Abstract

Abstract Within the intricate European genetic diversity landscape, Canary Islanders exhibit a unique genetic admixture, comprising European (EUR), North African (NAF), and sub-Saharan African (SSA) ancestries. This study aimed to comprehensively characterize the full spectrum of small genetic variation among 920 unrelated donors from this population based on whole-exome sequencing data to further develop CIRdb as the Canary Islanders-specific reference catalog of genetic variation. We combined this with SNP array data and whole-genome sequencing for specific analyses, revealing a total of 387,555 variants, of which 15.1% were previously unreported. Notably, 74.4% of these variants were classified as rare (with frequency

Fields of Study & Subjects

Genetic Associations and Epidemiology Connective tissue disorders research Genomics and Rare Diseases

Publication details

Journal / source
iScience
Publisher
Elsevier BV
Volume
29
Issue
8
Pages
117146–117146
Publication date
1 August 2026
Language
EN