IIS - Fundacion Jimenez Diaz Data Access Committee

Carmen Ayuso
cayuso@fjd.es

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Dataset ID	Description	Technology	Samples
EGAD00001007022	In the context of research, this dataset contains 423 IRD samples; 411 of them analyzed with Clinical Exome Sequencing solutions, and 12 with Whole Exome Sequencing.	NextSeq 500	423
EGAD50000000001	Targeted sequencing with the Myeloid Solutions™ Panel (MYS) of SOPHiA Genetics for COVID-19 patientds (n=241 deceased, n=239 survivors).	NextSeq 500	480
EGAD50000000847	The dataset includes sequencing data from five inherited retinal dystrophies (IRD) patients using three diferent platforms: Clinical Exome (CES), Long-read sequencing of RPE65 locus, and 3) whole genome sequencing.	Illumina NovaSeq X MinION NextSeq 2000	5
EGAD50000001239	NGS dataset including patients affected by genomic variants at gene PRPH2. It includes NGS test using custom IRD gene panels, clinical exome sequencing (CES) and whole-exome sequencing (WES).	NextSeq 550	61