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Dataset

Selected samples from the Boston Children's Hospital Childrens Rare Disease Cohorts initiative

Dataset ID Technology Samples
EGAD00001006179 Illumina NovaSeq 6000 30

Dataset Description

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.

Who controls access to this dataset

For each dataset that requires controlled access, there is a corresponding Data Access Committee (DAC) who determine access permissions. Access to actual data files is not managed by the EGA. If you need to request access to this data set, please contact:

CRDC Data Access Committee
Contact person: Shira Rockowitz
Email: shira [dot] rockowitz [at] childrens [dot] harvard [dot] edu
More details: EGAC00001001599

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