For labs
One versioned pipeline.Every classification on record.
Resumable uploads for large read files, QC you can read, and ACMG/AMP criteria proposed with their evidence for a scientist to accept or change.
Pipeline
From reads to variants, versioned.
Validate, annotate, segregate, prioritise. Each run keeps the pipeline release and the knowledge snapshot it used, so a finding can be traced and repeated.
VCF, gVCF, BAM, CRAM and FASTQ
Checksummed parts, files held in quarantine until validated
QC and coverage reported per sample
Classification
Criteria proposed. You sign.
ACMG/AMP criteria are proposed with the evidence behind each one, from rules your team can read. Nothing is final until a scientist signs it.
Every criterion with its source
Re-checked when the knowledge changes
Signed and versioned
For bioinformaticians
Your pipeline, or ours.
Bring your VCFsAnnotated and ranked against the current knowledge release.
Or raw readsOne pipeline release per run, with QC reported for each sample.
API keysTenant keys for uploads, case reads and reports, from your own systems. Vendor LIMS connectors do not exist yet.
ReproducibilityEach result records its pipeline, model and knowledge versions, so it can be re-run against them.