Somatic
Germline
Infectious diseases

Precision Bioinformatics

for Actionable Pathogen Insights.

Eliminate analytical bottlenecks, reduce turnaround times.

Unlock critical insights in metagenomics, virology and microbiome analysis.

Leverage the latest gold-standard databases for accurate pathogen identification.

Generate reports with taxonomic profiles, AMR, and virulence factors.

Achieve high-precision classification across all domains of life with an advanced LCA algorithm.

Monitor pathogen populations and analyze microbial trends over time.

Explore all genomic features of interest with an intuitive, integrated browser.

Whether tracking a fast-moving viral outbreak, decoding a complex metagenomic sample or characterizing a microbial infection, speed and precision are paramount. Molecular labs work against the clock to analyze NGS data, aiming to identify the exact pathogen and determine its drug resistance profile.

Our AI-powered platform is built for this time-critical work, transforming complex data into the actionable insights needed to guide effective treatment and protect public health.

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Comprehensive analysis in one platform.

Secondary

Singleton & Complex family structures
(up to 6 family members for the same price)

Supported providers

Tertiary

Panels

Very small to very large panels

WES

Clinical Exome to Whole Exome Sequencing

WGS

Whole Genome Sequencing

Quality

Power every analysis.

Discover our suite of Germline applications.

GermVar

Advanced bioinformatics for germline analysis from FASTQ files.

Supported Data

Panels (capture & amplicons), whole-exome & whole-genome

Variant Calling

SNVs, InDels, CNVs, Alu insertions, homopolymer regions

Quality Control

Coverage and contamination, ID check, kinship, etc.

Classification & Shortlist

SeqOne DiagAI quickly identifies disease causing variants

GermVar Family

Advanced bioinformatics for family analysis from FASTQ or VCF.
DiagAI Shortlist and accurate classification with de novo and heterozygous compound variants
Multi-member complex transmission analysis with heterogeneous phenotype mapping
AI-based carrier screening filter for genetic disease risk assessment
Up to 7 family members at no additional cost
Automated analysis creation with SeqOne Flow and PED files

GermVar Long-Read

Advanced bioinformatics for germline analysis from long read technologies.
Adaptive sampling and WGS workflow
Phased variants display, easily visualize haplotypes
Advanced structural variant visualization
Patented CFH/CFHR hybrid detection pipeline

Provider Compatibility

Oxford Nanopore Technologies, PacBio

More than a platform

Your lab, our commitment.

Every exome or genome sequencing case reveals 20,000–50,000 variants. Filtering down to the right candidate takes time—turning variant interpretation into a bottleneck. DiagAI changes that.

SeqOne’s AI-powered assistant accelerates rare disease diagnostics by ranking variants based on pathogenicity, phenotype relevance, and expert-curated rules.

Understand the Science Behind DiagAI. Download our White Paper.

Case study

How APHM Transformed Exome Sequencing with SeqOne

At APHM, one of France’s leading university hospitals, geneticists faced a growing challenge: too many variants, too little time. Their exome sequencing workflow was slow, manual, and overloaded, delaying critical diagnoses for patients with rare diseases.Enter SeqOne. By integrating AI-powered variant prioritization and automated workflows, APHM transformed its exome sequencing pipeline.

The result?

Green check

Faster turnaround times – from weeks to days

Green check

More confident diagnoses – AI-driven insights, expert-controlled decisions

Green check

Higher throughput – more cases processed  with the same resources

The automation of exome sequencing marks a pivotal moment for our laboratory. With SeqOne’s support, we’ve dramatically increased our sample analysis capacity and precision, significantly improving our ability to diagnose rare genetic diseases.

Read the full story

More than a platform.

Your lab, our commitment.

Built With You, Always Evolving.

Validate SeqOne 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.

Try it now