DAC

NIHR-BR-RD DAC

Dac ID Contact Person Email Access Information
EGAC00001000259 Kathleen Stirrups nihr_dac [at] medschl [dot] cam [dot] ac [dot] uk No additional information is available

This DAC controls 3 datasets:

Dataset ID Description Technology Samples
EGAD00001002656 Whole exome sequencing BAM files and whole genome sequencing CRAM files for 722 individuals from the NIHR-BioResource Rare Diseases Consortium (SPEED project) with inherited retinal disease. Illumina HiSeq 2000;ILLUMINA 767
EGAD00001001333 Whole exome sequencing BAM files for samples from the BRIDGE Consortium with pathogenic or likely pathogenic variants on genes linked to bleeding or platelet disorders. Illumina HiSeq 2000; 28
EGAD00001002730 SPEED - childhood dystonia KMT2B dataset Illumina HiSeq 2000;ILLUMINA 5