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

Figures

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  Figure 1. Geographical location of the Canary Islands

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  Figure 2. Enrichment analysis on the 2,068 putative pathogenic variants identified in the CIRdb catalog Annotations in Jensen Disease Ontology were evaluated. Box colors represent the within-island proportion of each category, while numbers indicate raw counts. Categories are ordered according to their overall frequency in the archipelago.

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  Figure 3. Distribution of whole-exome sequencing variants found in CIRdb based on genomic region and impact classification provided by Ensembl VEP Colors represent the following impact categories: dark blue for modifier impact, medium blue for high impact, gray for moderate impact, and light blue for low impact. ncRNA, noncoding RNA.

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  Figure 4. Proportion of singletons and non-singletons across different impact classifications found in CIRdb whole-exome sequencing data

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  Figure 5. Distribution of total and novel variants based on impact classification found in CIRdb whole-exome sequencing data

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  Figure 6. Representation of the exome-wide genetic variation in Canary Islanders (A) The first two principal components (PCs) of common variants (AAF > 0.05) explaining 17.2% of variability. (B) The first three PCs of rare variants (AAF < 0.005), excluding singletons and doubletons, explaining 19.9% of variability.

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  Figure 7. Discriminant analysis of principal components for all variants (A) Analysis including both Canary Islanders and reference populations (excluding outlier populations: SSA and FIN). (B) Analysis including only the Canary Islanders. LD1, horizontal axis; LD2, vertical axis. CEU, Utah Residents with Northern and Western European ancestry (1KGP); GBR, British (1KGP); IBS, Iberian population in Spain (1KGP); NAF, North African population.

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  Figure 8. Genome-wide scan of deviations in local ancestry components in the current inhabitants of the Canary Islands from CIRdb (A) European. (B) North African. (C) Sub-Saharan African. Horizontal dashed lines (blue>|2|; red>|3|) indicate Z score thresholds.

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  Figure 9. Average total ROH length (Mb) and the number of ROH fragments per island (A) All ROHs. (B) ROHs < 1.6 Mb. (C) ROHs ≥ 1.6 Mb.

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  Figure 10. iSAFE scan of whole-genome sequencing data in the genomic region surrounding rs3738476 Lines represent the moving average for each population. IBS, Iberian population in Spain (1KGP); NAF, North African population.

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  Figure 11. PheWAS of the rs3738476 variant Each triangle represents the p value of the association, pointing upward or downward depending on whether the variant is a risk or a protective factor. The size of the triangle corresponds to the odds ratio (OR), and its color indicates the respective ICD-9 category. The horizontal gray line represents the nominal significance threshold (p = 0.05).