EGAGenomicsN/Ahttps://ega-archive.org/datasets/EGAD0000100617930EGA dataset EGAD00001006179EGASelected samples from the Boston Children's Hospital Childrens Rare Disease Cohorts initiativefalse93d3cab2-2296-41c0-824c-5188d71334c6 - samplesThese 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 hs37d5.2022-01-25 15:59:08EGAD000010061799606EGAC00001001599EGAS00001004436