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Platform

One path from file to report.

The lab portal holds the whole run: upload, checks, analysis, flagged findings and the report your team releases.

What happens to a file.

Every stage keeps the limits of the file in view.

Illustrative run with synthetic data.

Read: why every result shows coverage

  1. Upload and checks

    Lab staff upload the export through the lab portal: an array text export (.txt, .csv, .tsv) or a VCF, compressed or not. The format is recognised and checked before analysis begins.

  2. Coverage per category

    For each category, the share of its panel the file actually typed is calculated and shown next to the result.

  3. Analysis

    One variant registry drives all 21 categories. Genes read from more than one variant, such as APOE and HFE, have dedicated handling. Array calls are unphased, so a genotype built from two variants cannot show which copy carries each.

  4. Safety flags

    Each finding carries its own safety flag, set per variant rather than per category. A flagged finding always gets the full write-up, whatever the report settings.

  5. Branded report

    The report is generated as a PDF in English, in your laboratory’s name and branding, for your team to review and release.

21 categories.

Clinical areas come first. Wellness and trait areas are analysed too, and trait markers can be left out of a laboratory’s reports.

Clinical

  • Pharmacogenomics
  • Rare disease
  • Oncology
  • Cardiovascular
  • Reproductive
  • Neurological
  • Metabolic
  • Immunity
  • Renal
  • Hormonal
  • Gastrointestinal
  • Musculoskeletal
  • Vision and hearing
  • Dermatology
  • Allergies

Wellness and traits

  • Nutrition
  • Sleep
  • Athletics
  • Longevity
  • Dental
  • Traits and heritage markers

Built on public evidence.

Variant definitions draw on ClinVar, the GWAS Catalog and PharmGKB. A definition becomes active only after it has been drafted and countersigned by a reviewer, and changes are kept in its history.

How we treat evidence

Bring us your assay.

Tell us what you run, who reads the report and what you want an evaluation to answer. We reply with a scoped plan.