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1. Case
2. Patient
3. Samples
4. Clinical
5. Files
6. Review
Case setup
Define the analysis before entering patient and sample information.
Case Type
Analysis Type
Genome Build
Patient / case identifiers
MRN / Patient ID and optional referral fields are kept separate from downstream genomic analysis metadata.
Sample / family information
Sample IDs entered here populate the file-to-sample mapping later. Filenames are never used to infer samples.
| Role | Member ID | Sample ID * | Reported Sex |
|---|
Clinical phenotype & test information
Add HPO terms and optional assay/panel details used by the downstream analysis.
Upload genomic files
Accepted: FASTQ, FASTQ.GZ, FQ, FQ.GZ, BAM, CRAM, VCF, VCF.GZ, gVCF and gVCF.GZ. Each file may be up to 1.00 GiB.
Each file uploads directly from this browser to S3 in 32 MiB parts. Completed parts survive connection failures, refresh, and logout. On a later visit, reselect the same local file to resume.
| File | Type | Sample | Status |
|---|
Interrupted uploads
Uploads listed here still have completed multipart data in S3. Select the original local file and resume.
Review & submit
Submitting writes the PII and analysis metadata as separate linked JSON objects in S3.
Files by sample
| Role | Sample ID | Sex | Number of Files |
|---|