Samples, runs & analyses

This page defines the objects you work with in the Variant Interpreter and how they relate. Read it once before your first session — the rest of the guide assumes these terms.

The hierarchy at a glance

Workspace
  └─ Instrument                 (the storage account where data resides: AWS / Azure / GCP)
       └─ Sample                (one individual's sequenced data)
            └─ Workflow run      (a secondary/tertiary analysis of that sample)
                 └─ Analysis     (what you open in the interpreter: variants + report)

• A workspace is the tenant you select after logging in. It scopes everything below it — you only see the storage, samples, and analyses that belong to the workspace you're in. See Workspaces & roles.

• An instrument is the cloud storage account (AWS S3, Azure Blob, or GCP) a workspace is connected to, surfaced on the Data Page. You select an instrument to list its samples. Connecting storage is normally an administrator task.

• A sample is one individual's sequenced data — the unit you open to interpret. A sample carries metadata used throughout interpretation: biological sex, phenotype (HPO) terms, and family relationships.

• A workflow run is a single execution of an analysis pipeline against a sample. A sample can have more than one run (for example, a re-analysis on a newer pipeline).

• An analysis is what opens in the Variant Interpreter when you choose Review analysis on a succeeded run. It holds that run's variant sets and its report.

Opening a sample for interpretation

You always enter interpretation through a succeeded workflow run:

1. On the Data Page, select an instrument and find your sample.

2. Open the sample to reach its details, then open the succeeded run.

3. Choose Review analysis to open the analysis in the interpreter.

Only succeeded runs can be opened. If a run failed or is still in progress, the sample's Analysis section shows its status and, for failures, which step failed. See Opening a sample for the step-by-step path.

The interpretation workspace

Once open, an analysis has three areas, reachable from the tabs at the top:

Tab	What it's for
Summary	Orientation and QC for the analysis, plus the priority findings to triage first.
Variant sets	The filterable variant tables — one per set — where you review and classify variants. See Reviewing variants.
Report	The single clinical report for this analysis. See Generating a report.

A sample drawer is available on every screen. It slides out to show the sample's details, its pedigree (for family-based analyses), and its workflow history, so you can check provenance without leaving the variant you're looking at.

Interpretation status

Each analysis tracks an outcome so your team can track what's still open:

• Active — interpretation is in progress.

• Solved — a causative finding was reached.

• Unsolved — interpretation completed without a causative finding.

Provenance

Every analysis records the reference genome, the pipeline version, and the caller versions used to produce its variants. These are shown in the interpreter and printed on the released report so any finding can be traced back to exactly how it was produced. See Pipeline & caller versions.