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Exome Sequencing of Spanish Patients with rare genetic diseases.

Whole exome sequencing of Spanish patients suffering from a rare genetic disease. The study was carried out in 2013 as a part of a public call from CNAG (Centro Nacional de Análisis Genómico), where data of eight spanish families were sent to analyse. The study concluded with three solved cases: two of aniridia and one syndromic RP.

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
EGAD00001005498 unspecified 3
Publications Citations
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Sci Rep 11: 2021 1526
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
Hum Genet 140: 2021 1665-1678