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Creating Samples

The sample is the physical specimen taken from a subject. A sample owns the sequencing files (VCF, BAM, FASTQ) and the metadata describing how the specimen was collected and processed.

Sample list page showing samples linked to their subjects, with sample IDs and creation dates.

Creating a sample

  1. Open Samples from the left nav and click New Sample.
  2. Choose the Subject this sample was taken from.
  3. Enter a Sample ID — a human-readable identifier, unique within the project (e.g. NA12878-DX-01).
  4. Optionally add specimen metadata: specimen type, collection date, sequencing type, and any other identifiers your workflow needs.
  5. Click Create Sample.

Creating a sample requires a project Contributor or Admin role.

Files

Sample files live under samples/{slug}/uploads/, where {slug} is derived from the Sample ID — see File Paths:

File Purpose
*.vcf.gz Variant calls — the input for tertiary reporters and the variant browser.
*.bam (+ .bai) Aligned reads, useful for IGV inspection.
*.fastq.gz Raw reads, when the pipeline does alignment.

Tabix index (.tbi) is only needed for order VCFs

A VCF that goes into an order (for example, after a completed analysis) must be bgzipped and tabix-indexed (.vcf.gz + .tbi) so the variant browser can build its cache. A VCF you upload as the starting input to a workflow does not need a .tbi index.

Where things live in the UI

  • Samples list/samples. Browse and search the project's samples.
  • Sample detail/samples/{sample_id}. View the sample's metadata, its subject, the orders it participates in, and its uploaded files.
  • New sample/samples/new. Create a sample by choosing a subject, entering a Sample ID, and adding optional specimen metadata.
  • Subjects — where samples come from.
  • Orders — how samples participate in a case.
  • For scripted creation, manifest upload, and samplesheet generation, see CLI → Managing Samples.
  • Analyses — how a sample's files feed a pipeline.