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Whole Exome Sequencing of healthy Spanish individuals

The need for a detailed catalogue of local variability for the study of rare diseases within the context of the Medical Genome Project motivated the whole exome sequencing of 267 unrelated individuals, representative of the healthy Spanish population.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001001012 AB 5500xl Genetic Analyzer 267
EGAD00001003101 267
Publications Citations
The role of the interactome in the maintenance of deleterious variability in human populations.
Mol Syst Biol 10: 2014 752
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.
Mol Biol Evol 33: 2016 1205-1218
CSVS, a crowdsourcing database of the Spanish population genetic variability.
Nucleic Acids Res 49: 2021 D1130-D1137
Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data.
Eur J Hum Genet 29: 2021 1557-1565
A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact.
Pharmaceutics 15: 2023 1286