IIS - Fundacion Jimenez Diaz Data Access Committee

Carmen Ayuso
cayuso@fjd.es

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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
EGAD00001008993	In this study, the DNA of 44 subjects with severe COVID-19 have been sequenced in order to explore rare genetic variants.	Illumina NovaSeq 6000	44