EGAGenomicsExome Sequencinghttps://ega-archive.org/studies/EGAS00001004028EGAEGA study EGAS00001004028Exome Sequencing of Spanish Patients with rare genetic diseases.EGArestrictedother disease, WES, Complete Transcriptome, human disease, Complete, Complete Transcriptome Sequencing, Exome Sequencings, Complete Exome Sequencings, Complete Exome, Complete Exome Sequencing, Whole Transcriptome Sequencing, Exome, familial, disorders, Client, Sequencing, genetic, non-neoplastic, disease, Exome Sequencing, Whole Exome, Patient, diseases, Clients, Whole, Whole Exome Sequencing, Diseases, disease or disorder, condition, disorder, diseases and disorders, Homo sapiens disease, medical condition., Whole Transcriptome, Transcriptome Sequencing, inherited genetic, rare (European definition), constitutitional genetic, Transcriptome Sequencings, hereditarySingle-Gene Defects, Disease, aplasia of iris, Genetic Disease, Disorders, Complete Exome Sequencings, Complete Exome, "Aplasia of iris (disorder)" EXACT [SNOMEDCT_2005_07_31:204161008], Genetic Disorders, Exome, Absent Iris, Hereditary Diseases, Irideremia, Congenital Aniridia, Client, AN., Exome Sequencing, "Aniridia (disorder)" EXACT [SNOMEDCT_2005_07_31:69278003], Single-Gene, Diseases, Inborn Genetic Disease, Whole Transcriptome, Transcriptome Sequencing, rare (European definition), Genetic Disorder, Inborn, study, WES, Complete Transcriptome, Complete, Complete Transcriptome Sequencing, Exome Sequencings, Genetic, Complete Exome Sequencing, Inborn Genetic, Whole Transcriptome Sequencing, Defects, Defect, Sequencing, Genetic Diseases, Whole Exome, Hereditary Disease, Single-Gene Defect, Patient, Clients, Inborn Genetic Diseases, Hereditary, Whole, Disorder, Absent iris, Whole Exome Sequencing, Transcriptome Sequencings, Single Gene Defects, Mendelian diseasefalseExome 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.2019-11-26 16:53:39EGAS000010040289606EGAD00001005498EGAC00001001392