CRDC Data Access Committee

Shira Rockowitz
shira.rockowitz@childrens.harvard.edu

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Dataset ID	Description	Technology	Samples
EGAD00001006179	These are some selected exomes from the first year of the Childrens Rare Disease Cohorts initiative at Boston Children's Hospital. Patients were drawn from the following cohorts: immunodeficiency, epilepsy, IBD, hearing loss, and orphan diseases. Raw sequencing was performed on Illumina NovaSeq 6000 machines, and aligned to hs37d5.	Illumina NovaSeq 6000	30