Selected samples from the Boston Children's Hospital Childrens Rare Disease Cohorts initiative
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.
- 30 samples
- DAC: EGAC00001001599
- Technology: Illumina NovaSeq 6000
Deidentified CRDC data is conditionally made available to outside investigators, subject to coordination with the Data Access Committee.
Data sharing is available internally to investigators at BCH through the Genomic Learning System, and may be available upon request for collaborative projects between pediatric or other institutions. Requests should be directed towards the Data Access Committee for approval.
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| EGAS00001004436 | Other |
This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.
| ID | File Type | Size | Located in | |
|---|---|---|---|---|
| EGAF00003946239 | bam | 12.5 GB | ||
| EGAF00003946340 | bam | 8.8 GB | ||
| EGAF00003946341 | bam | 12.4 GB | ||
| EGAF00003946342 | bam | 10.7 GB | ||
| EGAF00003946343 | bam | 7.8 GB | ||
| EGAF00003946344 | bam | 8.7 GB | ||
| EGAF00003946345 | bam | 7.9 GB | ||
| EGAF00003946346 | bam | 5.4 GB | ||
| EGAF00003946347 | bam | 132.2 MB | ||
| EGAF00003946348 | bam | 8.7 GB | ||
| EGAF00003946349 | bam | 13.8 GB | ||
| EGAF00003946350 | bam | 11.7 GB | ||
| EGAF00003946351 | bam | 9.3 GB | ||
| EGAF00003946352 | bam | 10.8 GB | ||
| EGAF00003946353 | bam | 11.0 GB | ||
| EGAF00003946354 | bam | 11.6 GB | ||
| EGAF00003946355 | bam | 16.1 GB | ||
| EGAF00003946356 | bam | 19.1 GB | ||
| EGAF00003946357 | bam | 11.9 GB | ||
| EGAF00003946358 | bam | 8.5 GB | ||
| EGAF00003946359 | bam | 12.3 GB | ||
| EGAF00003946360 | bam | 8.8 GB | ||
| EGAF00003946361 | bam | 13.0 GB | ||
| EGAF00003946362 | bam | 9.9 GB | ||
| EGAF00003946363 | bam | 9.7 GB | ||
| EGAF00003946364 | bam | 9.2 GB | ||
| EGAF00003946365 | bam | 10.6 GB | ||
| EGAF00003946366 | bam | 10.4 GB | ||
| EGAF00003946367 | bam | 8.0 GB | ||
| EGAF00003946368 | bam | 9.2 GB | ||
| 30 Files (308.1 GB) | ||||