Introducing the SeqOne Platform.

Discover next-generation genomics.

The Congenica Rare Disease (CRD) Platform is transitioning to the SeqOne Platform.
Same clinical mission, same patient focus, built on technology that goes further.

100%

CRD features

preserved or enhanced

20+

new capabilities

beyond what CRD offers

200+

clinical labs

already on the platform

35+

countries served

across 4 continents

Your upgrade at a glance.

Your complete genomic toolkit, upgraded.

All Core Features Preserved

Seamlessly transition without data gaps. SNV, Indel, CNV, trio/family workflows, ACMG classification, HPO phenotyping, gene panels, and clinical reporting are fully preserved.

Enhanced AI Prioritization

Accelerate discovery. DiagAI automatically extracts HPO terms from narratives. Driven by our UP² engine, the model captures 98% of causal variants within the top 10 candidates.

Built-In Advanced QC

Access tools absent in legacy platforms. Protect data integrity with automated contamination checks, sample identity verification (ID-Check), and comprehensive WES coverage summaries.

See it in action.

Discover GermVar,
the SeqOne germline analysis solution.

Book a demo

Side by side.

Every feature compared,
category by category.

Category

Feature

CRD (Congenica)

GermVar

Direction

Input

FASTQ, BAM, VCF

Equal

Input

Long-read

GermVar+

Pipeline

UMI support

Limited

GermVar+

Variants

SNV/Indel/CNV

Equal

Variants

STR detection

Load only

GermVar+

AI

Prioritization

Equal

AI

HPO extraction

GermVar+

AI

AutoACMG

Hints only

GermVar+

Family

Trio analysis

Equal

Filtering

Combinable profiles

GermVar+

QC

Contamination check

GermVar+

QC

ID-Check

GermVar+

Workflow

Double-user check

Equal

Workflow

Task assignment

GermVar+

Workflow

Define User Access Levels

Yes

Yes

Equal

Browser

Genome browser

Extensive

SeqOne Browser (cytoband, RefSeq, CN track, BAF, DGV) + IGV

Equal

Integration

REST API

v3

Public API v1 (12 endpoint categories) + API keys

Equal

Browse detailed feature comparison

A smooth path forward.

Migrate with confidence.

Each step is carefully orchestrated by our dedicated team so you can transition with peace of mind.

Phase 1

Preparation

We audit your CRD setup and plan every detail of the migration.

Phase 2

Configuration

We set up GermVar to mirror and enhance your workflows.

Phase 3

Validation

We run your cases on both platforms and prove concordance.

Phase 4

Go-Live

You switch to production with dedicated support by your side.

What You Do

Share your current CRD configuration and workflows

Attend short training sessions (2-3 hours total)

Review the validation report we prepare

Give the green light to go live

vs

What We Handle

Full audit of your CRD environment

Platform configuration and data migration

Gene panels, VKB, and filter profile setup

Run validation samples and produce concordance report

QC threshold configuration and testing

Deliver tailored training for your team

Post-go-live monitoring and dedicated support

All of your critical data, seamlessly transferred to the SeqOne Platform.
Want to see how GermVar maps to the CRD workflow?
Download our workflow mapping.

Gene Panels

Virtual panels -> In silico panels

Curated Variants

CVL -> Variant Knowledge Base

Filter Presets

Presets -> Filter Profiles

Users & Roles

Role mapping and permissions

Get in touch

Beyond CRD.

What your lab gains with SeqOne.

The SeqOne Platform is more than a replacement for CRD.
It's a state-of-the-art, IVDR-certified platform built for the diagnostic workflows of today, and the growth opportunities of tomorrow.

Purpose-Built for Germline

A complete, IVDR-certified germline workflow covering everything CRD offered, and more. GermVar runs on the broader SeqOne Platform, so somatic and upcoming PGx workflows are ready when your lab needs them.

GermlineSomatic PGx

Guaranteed Stable Pricing

No surprise invoices. The SeqOne Platform offers transparent, predictable pricing so your lab always knows what to expect. Full cost visibility, no hidden fees.

Price stabilityNo hidden fees

Always Up-to-Date Resources

All annotation databases are refreshed every quarter, so your team always works from the latest clinical evidence. No waiting for annual releases, no risk of outdated data.

ClinVar 2026-02gnomAD v4.1OMIM 2026-03PanelApp 2026-03

Our next-generation platform.

Where AI meets clinical genomics to deliver faster, smarter diagnoses.

GermVar Pipeline

One pipeline for Panels, WES & WGS. Multi-caller architecture with haplotype-based calling, CNV & SV detection, mitochondrial analysis, mosaic detection, and built-in STR expansion.

GenomeAlert Re-Analysis

Never miss a diagnosis. Automatically re-analyse unsolved cases against updated databases each month and alerts you when new evidence could change a patient's outcome.

ACMG Automation

Best-in-class ACMG criterion automation with ClinGen guidelines and gene-specific VCEP recommendations. Classifications follow the latest expert-curated rules out of the box.

Flexible Filtering

Comprehensive filter engine for SNV/Indels and CNV/SVs. Combine presets with Preset Combos, mark favorites, and share configurations across your entity or keep them private.

DiagAI Autofill

Generate clinical-scientist-level variant comments with a single click. Near report-ready narratives in seconds, drastically cutting manual writing time.

DiagAI Prioritization

Identify disease-causing variants with full transparency. UP² score breakdown via waterfall plots, phenotypic matching, and clear explanations of every ranking — so you understand every recommendation.

Security & Compliance You Can Trust

Your data stays yours—never shared, never sold. Our patented double-encryption system secures each patient file with a unique key for maximum data protection. You stay safe, compliant, and in control.

SeqOne Platform is a Class C, CE-IVDR certified in vitro diagnostic medical device, manufactured by SeqOne SAS (France). In the United Kingdom, SeqOne Platform is distributed under the Congenica brand by Congenica Ltd, a UK affiliate of SeqOne SAS. Congenica Ltd acts as the UK Responsible Person in accordance with UK MDR 2002.The company is certified under ISO 13485 for medical device manufacturer, and under ISO 27001 for information security and health data hosting.

A full spectrum of solutions, from oncology to rare diseases.

Find your lab’s match.

Somatic

Oncology

Identify acquired mutations in cancers.

  • Solid Tumors

  • Liquid Biopsy

  • Hematology

  • Hereditary Cancers

Germline

Inherited Diseases

Pinpoint germline variants.

  • Rare Diseases

  • Inherited Disorders

  • Carrier Screening

  • Hereditary Cancers

Infectious

Infectious Diseases

Detect microbial pathogens.

  • Viral Diseases

  • Bacterial Infections

  • Antimicrobial Resistance

  • Gene Function Prediction

More than a platform

Your lab, our commitment.

Built With You, Always Evolving.

Validate Congenica with your own data, expert support, and zero commitment.

Transparent, Flexible Pricing

Pay-per-analysis with no hidden fees or volume constraints.

Personalized Support

Access field specialists, multi-lingual assistance and hands-on guidance.

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