Study

Exome Sequencing of Spanish Patients with rare genetic diseases.

Study ID Alternative Stable ID Type
EGAS00001004028 Other

Study Description

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.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001005498
Whole Exome sequencing of a set of Spanish patients suffering rare genetic diseases. The set consists of 3 patients, two were diagnosed with Aniridia (ANI-0006 and ANI-0023) and another one was diagnosed with Retinitis Pigmentosa (RP-0247).
unspecified 3

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