ArticleMolecular biology and evolution2016
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.
Article in Molecular biology and evolution, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 1 of them a synthesis that pooled it.
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Who cites it
51 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Whole-Exome Sequencing for the Identification of Genetic Factors Implicated in Severe Bacterial Infections: A Systematic Review.The Journal of infectious diseases · 2026Pooled it
- Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders.iScience · 2026Article
- The Spanish Polygenic Score reference distribution: a resource for personalized medicine.European journal of human genetics : EJHG · 2026Article
- Advanced maternal age and assisted reproductive technologies: outcomes, genomics, and real-world evidence.Frontiers in reproductive health · 2026Review
- Whole-Genome Sequencing in Galicia Reveals Male-Biased Pre-Islamic North African Ancestry, Subtle Population Structure, and Microgeographic Patterns of Disease Risk.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Review
- Genomic landscape of the Great Steppe: Genetic variants in healthy Kazakh individuals.Scientific data · 2025Article
- Inferring past demography and genetic adaptation in Spain using the GCAT cohort.Scientific reports · 2025Article
- Equitable machine learning counteracts ancestral bias in precision medicine.Nature communications · 2025Article
- Nerve growth factor gene polymorphisms may be associated with heroin dependence in women but do not mediate specific personality traits.European archives of psychiatry and clinical neuroscience · 2025Article
- A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.Journal of translational medicine · 2025Article
- Degeneration Directory: a multi-omics web resource for degenerative diseases.Protein & cell · 2024Article
- Article
- A crowdsourcing database for the copy-number variation of the Spanish population.Human genomics · 2023Article
- Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks.International journal of molecular sciences · 2023Article
- Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders.Scientific reports · 2022Article
- Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.International journal of molecular sciences · 2022Article
- Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.Scientific reports · 2022Article
- Review
- Use of proteomics to identify mechanisms of hepatocellular carcinoma with the CYP2D6*10 polymorphism and identification of ANGPTL6 as a new diagnostic and prognostic biomarker.Journal of translational medicine · 2021Article
Corrections and comments
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Authors and funding
24 authors.
Funding
Abstract
Recent results from large-scale genomic projects suggest that allele frequencies, which are highly relevant for medical purposes, differ considerably across different populations. The need for a detailed catalog of local variability motivated the whole-exome sequencing of 267 unrelated individuals, representative of the healthy Spanish population. Like in other studies, a considerable number of rare variants were found (almost one-third of the described variants). There were also relevant differences in allelic frequencies in polymorphic variants, including ∼10,000 polymorphisms private to the Spanish population. The allelic frequencies of variants conferring susceptibility to complex diseases (including cancer, schizophrenia, Alzheimer disease, type 2 diabetes, and other pathologies) were overall similar to those of other populations. However, the trend is the opposite for variants linked to Mendelian and rare diseases (including several retinal degenerative dystrophies and cardiomyopathies) that show marked frequency differences between populations. Interestingly, a correspondence between differences in allelic frequencies and disease prevalence was found, highlighting the relevance of frequency differences in disease risk. These differences are also observed in variants that disrupt known drug binding sites, suggesting an important role for local variability in population-specific drug resistances or adverse effects. We have made the Spanish population variant server web page that contains population frequency information for the complete list of 170,888 variant positions we found publicly available (http://spv.babelomics.org/), We show that it if fundamental to determine population-specific variant frequencies to distinguish real disease associations from population-specific polymorphisms.
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Registered trials
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