Platform features

Published on

April 30, 2026

The Spring 2026 Release is Here

Our most ambitious release yet is live. Our Spring 2026 Release is packed with 72 features and improvements, all IVDR-certified from day one, so every advance reaches patients without delay.

From a fully rebuilt Large Variant Viewer to new WGS callers and a smarter DiagAI, this release raises the bar for clinical genomic interpretation.

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🖥️ Large Variant Viewer — SNV-style interpretation, now for structural variants

📚 Rebuilt Variant Knowledge Base — with customizable tags and instant VKB search

✨ DiagAI improvements — UP² retrained on 3M+ variants, new UP²-SV score

🔎 New WGS callers — STRs and Segmental Duplications, natively detected

⚙️ Lab governance — Protocol Module, filter locking, and a full Public API (v1)

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Explore the Spring 2026 Release

What’s new at SeqOne?

Case study

Apr 28, 2026

The 30-Year Waiting Room: How One Spanish Hospital Ended a Genomic Odyssey

A Spanish hospital ended a patient's 30-year diagnostic odyssey by combining Agilent's advanced exome sequencing with SeqOne's AI platform, uncovering a rare DMD gene duplication that had eluded detection for decades.

Science

Apr 13, 2026

DiagAI Captures 98% of Causal Variants Within 10 Candidates, Validated on 565 Genomics England WGS Cases

Validated on 565 Genomics England WGS cases, DiagAI achieves impressive performance, with full explainability and CE-IVD certification.

Case study

Mar 12, 2026

HRD Testing Belongs in the Clinic. Genekor Medical Is Proving It.

Genekor Medical, a Romanian diagnostics lab, uses SeqOne's platform to make HRD testing a routine clinical workflow. Using shallow whole genome sequencing and automated FASTQ-to-GIS analysis, they've cut complexity and costs, proving that reliable precision oncology testing is achievable for regional labs beyond major European hubs.

Science

Feb 26, 2026

Beyond the Black Box: A Framework for Evaluating Clinical Bioinformatics Platforms in 2026

Genomic data is abundant. Interpreting it is the challenge faced by most modern labs today. Watch our webinar for a practical framework on choosing the right bioinformatics platform.

Case study

Jan 14, 2026

Powering the Future of Genomics: How Uppsala University Hospital and SeqOne are Revolutionizing Clinical Diagnostics

Revolutionizing clinical diagnostics: Uppsala University Hospital and SeqOne build a unified, future-proof genomics lab.

Case study

Dec 16, 2025

Beyond the Exome: How One Lab is Democratizing Whole Genome Sequencing in Eastern Europe

Decoding the whole genetic code: how one lab mastered Whole Genome Sequencing to deliver life-changing rare disease diagnoses.

Testimonial

Dec 11, 2025

Scaling Personalized Medicine: How AI-Powered Bioinformatics are Redefining NGS Analysis at Cerba Internacional

Spanish diagnostic leader Cerba Internacional used the AI-driven SeqOne platform to overcome NGS data bottlenecks.

Platform features

Nov 13, 2025

SeqOne Launches SomaLBx and SomaMethyl: A Comprehensive In-House Solution for Oncology Liquid Biopsy

New integrated tools enable comprehensive liquid biopsy analysis, covering both somatic variants and epigenetic signatures in a single workflow.

Science

Oct 16, 2025

Delivering Personalized Oncology for Patients: Integrating Molecular Signatures in Clinical Practice

Rewatch our webinar to discover how molecular signatures like HRD and IGHV mutational status are used in clinical practice to deliver personalized oncology.

News

Sep 2, 2025

SeqOne acquires Congenica to create a global leader in AI-powered genomic medicine

Strategic acquisition of UK genomics leader Congenica reinforces SeqOne market position and footprint - servicing over 160 labs in 30+ countries.

Science

Jul 28, 2025

AI in Clinical Genomics: The Science and Real-World Impact of AI on Variant Interpretation

Rewatch our webinar to discover how AI is revolutionizing clinical genomics, speeding up variant interpretation, and enhancing diagnostic accuracy.

News

Jul 15, 2025

SeqOne Appoints Bioinformatics Veteran Dr. Jonathan Sheldon to Board of Directors, Strengthening Leadership in AI-Powered Genomic Medicine

Jonathan Sheldon, a distinguished bioinformatics and digital health executive (ex-QIAGEN, Oracle), joins SeqOne's board, bolstering their global personalized medicine expansion.

News

Jun 11, 2025

SeqOne and Agilent Announce Strategic Collaboration to Advance Liquid Biopsy Data Analysis for Oncology Applications

News

May 22, 2025

SeqOne Genomics Raises €20 Million in Oversubscribed Growth Round to Lead AI-Powered NGS Revolution in Personalized Medicine

New capital from Supernova Invest, alongside existing partners Elaia, Omnes, and Merieux Equity Partners, will accelerate SeqOne’s mission to transform genomic diagnostics worldwide, focusing on international expansion, U.S., and strategic growth.

Platform features

May 7, 2025

SeqOne Launches SomaHemato: Advancing Precision in CLL Prognostics with Robust IGHV Mutational Status Analysis on the SeqOne Platform

SeqOne's SomaHemato offers robust, validated IGHV analysis for CLL prognosis, overcoming NGS short-read limits for precise clinical insights.

News

Apr 7, 2025

SeqOne Accelerates Growth and Expansion into Multi-Omics with Life & Soft Acquisition

Strategic acquisition bolsters SeqOne's multi-omics capabilities and expands service offerings with ISO-certified sequencing platform.

Platform features

Feb 10, 2025

Next-Generation Phenotype-Driven Genomic Analysis with SeqOne

SeqOne's DiagAI HPO automates extraction of HPO terms from clinical notes using AI, streamlining phenotype-driven genomic analysis with multi-language support.

Testimonial

Dec 5, 2024

Transforming Patient Care: SeqOne Empowers CHU de Reims with Advanced Genomic Analysis

Professor Anne-Sophie Lèbre of CHU de Reims uses SeqOne for rare disease and oncology genomics, enabling rapid, precise variant interpretation.

Science

Dec 5, 2024

Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterization of large-scale rearrangement for the diagnosis of cancer predisposition

Here, 30 well-characterized clinical germline samples were studied with adaptive sampling to enrich the full sequence of 152 cancer predisposition genes. Sequencing was performed on Oxford Nanopore (ONT) R10.4.1 MinION flowcells with the Q20+ chemistry.

Platform features

Nov 18, 2024

SeqOne’s DiagAI Score Brings Transparency to Genomic Variant Ranking: Unveiling the AI Decision Process with xAI

DiagAI uses inheritance & quality rules based on real diagnostic data, enabling clinicians to understand AI recommendations and collaborate on system improvement.

News

Nov 14, 2024

SeqOne Platform Achieves IVDR Certification, Setting New Quality Standards for Clinical Genomic Analysis

SeqOne Platform gets IVDR Class C medical device certification for NGS analysis in oncology and rare diseases, validating quality and safety.

Case study

Oct 14, 2024

Precision Medicine at Scale: AP-HM’s Automated Exome Analysis Success Story

APHM and SeqOne partner to automate exome sequencing with AI, processing up to 2,000 rare disease samples yearly for better diagnostics.

Platform features

Oct 9, 2024

SeqOne Unveils DiagAI Score: Explainable AI-Powered Variant Ranking

SeqOne launches DiagAI Score, a 0-100 metric for ranking genetic variants' disease-causing potential, combining AI power with human expertise for faster diagnosis.

Science

Sep 30, 2024

Fine mapping of RNA isoform diversity using an innovative targeted long-read RNA sequencing protocol with novel dedicated bioinformatics pipeline

Solving the structure of mRNA transcripts is a major challenge for both research and molecular diagnostic purposes. Current approaches based on short-read RNA sequencing and RT-PCR techniques cannot fully explore the complexity of transcript structure.

Case study

Sep 9, 2024

Case Study: North West GLH Validation and Implementation of In-House HRD testing with SeqOne’s SomaHRD

SeqOne’s HRD platform enables North West GLH to conduct in-house genomic instability testing for ovarian cancer.

News

Jun 17, 2024

MGI Tech and SeqOne Partner to Advance End-to-End Genomic Analysis

MGI and SeqOne partner to develop genomic analysis solutions, combining MGI's sequencing tech with SeqOne's AI-powered platform.

Platform features

Jun 17, 2024

Introducing SeqOne CGH Array Interpretation

SeqOne Cloud now supports Agilent CGH MicroArrays, offering AI-powered CNV annotation, ACMG classification, and seamless Cartagenia migration.

Platform features

Apr 19, 2024

SeqOne GenomeAlert! A variant reevaluation automation agent to improve patient care

GenomeAlert! reevaluates genetic variant classifications monthly against ClinVar to ensure accurate patient diagnoses and treatment.

News

Mar 11, 2024

Oxford Nanopore Technologies and SeqOne Partner to Support Interpretation of Nanopore Sequencing in Clinical Use

A new partnership delivers end-to-end genome nanopore sequencing solutions for clinical applications in rare disease and oncology.

Science

Mar 1, 2024

Clinical evaluation of a low-coverage whole-genome test for detecting homologous recombination deficiency in ovarian cancer

The PAOLA-1/ENGOT-ov25 trial showed that maintenance olaparib plus bevacizumab increases survival of advanced ovarian cancer patients with homologous recombination deficiency (HRD).

News

Jan 30, 2024

SeqOne Genomics appoints Martin Dubuc as Chief Executive Officer

Martin Dubuc appointed as SeqOne Genomics CEO, Nicolas Philippe becomes President & CPSO to drive global clinical genomics expansion.

Platform features

Feb 22, 2023

SeqOne's Clinically Validated HRD Test Enhances Precision in Ovarian Cancer Treatment

SeqOne launches HRD test for ovarian cancer patients, validated with PAOLA-1 cohort. Clinical validation shows comparable survival benefits to Myriad myChoice® CDx.

Science

Nov 21, 2022

Genomic analysis of adult thrombotic microangiopathies in less than 3 days: from rapid to fast genomics to treatment

Using nanopore sequencing, we showed the feasibility and impact of rapid genomic screening for managing thrombotic microangiopathies in 18 prospective cases, achieving diagnoses in <3 days. We compared the results with standard exome sequencing, cost efficiency, and complement blockade initiation.

Science

Sep 22, 2022

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Despite the availability of whole exome (WES) and genome sequencing (WGS), chromosomal microarray (CMA) remains the first-line diagnostic test in most rare disorders diagnostic workup, looking for copy number variations (CNVs), with a diagnostic yield of 10%–20%.

Science

Jun 22, 2022

Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective

This monocentric study included fifteen children under a year old in intensive care with suspected monogenic conditions for rapid trio exome sequencing (rES) between April 2019 and April 2021.

Science

Jun 4, 2022

Predominance of BRCA2 Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with BRCA1 or BRCA2 Mutation

Poly(ADP-ribose) polymerase 1 inhibitor (PARPi) agents can improve progression-free survival of patients with breast cancer who carry a germline BRCA1 or BRCA2 pathogenic or likely pathogenic variant (gBRCA) in both the metastatic and adjuvant setting.

Science

Mar 17, 2022

Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene–phenotype reassessment in clinical routine

Retrospective interpretation of sequenced data in light of the current literature is a major concern of the field. Such reinterpretation is manual and both human resources and variable operating procedures are the main bottlenecks.

Science

Jun 23, 2021

Kmerator Suite: design of specific k-mer signatures and automatic metadata discovery in large RNA-seq datasets

The huge body of publicly available RNA-sequencing (RNA-seq) libraries is a treasure of functional information allowing to quantify the expression of known or novel transcripts in tissues.

Science

Sep 26, 2020

Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis

Osteoarthritis (OA) is the most common joint disease worldwide. The etiology of OA is varied, ranging from multifactorial to environmental to monogenic.

Science

Dec 28, 2017

DE-kupl: exhaustive capture of biological variation in RNA-seq data through k-mer decomposition

We introduce a k-mer-based computational protocol, DE-kupl, for capturing local RNA variation in a set of RNA-seq libraries, independently of a reference gen...

Science

Sep 29, 2017

SimBA: A methodology and tools for evaluating the performance of RNA-Seq bioinformatic pipelines

The evolution of next-generation sequencing (NGS) technologies has led to increased focus on RNA-Seq. Many bioinformatic tools have been developed for RNA-Seq analysis, each with unique performance characteristics and configuration parameters.