Health Hub · the platform

From raw reads to a queryable cohort.

The same Health Hub platform that runs the clinical agents runs genomics: a reproducible pipeline with the QC discipline research demands, an output layer that links sequence to clinical phenotype, all on the Forge OS.

Raw reads → linked records → cohort → queryable

End to end

From sample registration to a signed report.

One reproducible pipeline carries every sample from accessioning through interpretation, secondary and tertiary analysis, review and reporting, in one place.

  1. 01
    Sample registration & tracking

    Barcoded accessioning and full chain-of-custody, every sample tracked from receipt to result.

  2. 02
    Secondary analysis

    Alignment, joint calling and variant calling (SNVs, indels and CNVs) on a documented, reproducible pipeline.

  3. 03
    Quality control

    Sample- and variant-level QC with MultiQC, captured in a detailed, defensible QC report.

  4. 04
    Annotation

    Functional, population and clinical annotation, ready to interpret.

  5. 05
    Tertiary analysis

    Variant filtering and prioritisation, AI-driven ACMG / AMP classification, and automated variant-description generation.

  6. 06
    Review & reporting

    An embedded IGV variant viewer, clinical history mapped to HPO, and AI-generated, sign-off-ready reports.

1Register2Secondary3QC4Annotate5Tertiary6Report01 · Sample registration & trackingBarcoded accessioning · full chain-of-custody WLY-2024-0042 Accessioned Chain of custody Received09:12Accessioned09:19Aliquoted09:26In process09:3102 · Secondary analysisAlignment · joint calling · SNV / indel / CNV Read pileup · 42× coverage SNV indel CNV Reproducible pipeline · reference GRCh38 · joint genotyping 03 · Quality controlSample & variant QC · MultiQC reportCoveragePass42.6×Q30Pass94.2%Dup rateWarn8.1%Insert sizePass412 bpGC contentPass41%ContaminationPass0.3% QC report Sample passes 04 · AnnotationFunctional · population · clinical — ready to interpretFunctionalframeshift · LoFClinicalClinVar · pathogenicPopulationgnomAD AF 0.00001GeneBRCA1 · tumour suppressor Variant BRCA1 c.68_69del chr17:43,124,027 · p.(Glu23fs) 05 · Tertiary analysisFilter & prioritise · AI ACMG/AMP · auto-description4,812,344Variants called1,204Rare · high-impact1Prioritised candidate AI · ACMG / AMP BRCA1 c.68_69del PVS1PM2PP3 Pathogenic Auto-generated description 06 · Review & reportingIGV viewer · HPO mapping · signed report Clinical genomics report WLY-2024-0042 Result BRCA1 c.68_69del Pathogenic IGV · chr17:43,124,027 Clinical history · HPO HP:0003002 · Breast carcinomaHP:0000006 · AD inheritanceHP:0100013 · Neoplasm of the breast Dr. A. Rao · Lab Director · 29 Jun 2026 SIGNED SAMPLE WLY-2024-0042

Sample registration through secondary and tertiary analysis to a signed report, one pipeline.

Interpretation, accelerated

The tertiary layer, built in.

Everything an analyst needs to go from a VCF to a defensible call, AI-assisted, evidence-cited, human-confirmed.

Your data, in full

The only provider that hands back everything.

Most labs return a PDF. We return the complete data estate (every intermediate file, the full QC, and any custom output you ask for) so the science is yours to re-analyse, audit and build on.

FASTQ

BAM

CRAM

VCF

Annotated VCF

CNV calls

MultiQC reports

Detailed QC report

Custom data on request

The infrastructure

Built to live next to clinical data.

Bring us your samples or your questions.

Whether it's a single cohort or standing infrastructure, we'll scope the pipeline to fit.