In the high-stakes world of clinical genomics, data is only as valuable as the insights we can extract from it. For Cerba Internacional, a leader in Spanish diagnostics, the steep rise in Next-Generation Sequencing (NGS) demand created a critical bottleneck. The challenge was no longer about just sequencing DNA; it was about interpreting a massive surge of complex data without burning out their medical and technical teams.
To break through this ceiling, Cerba Internacional partnered with SeqOne, implementing the AI-driven analysis platform. This implementation was managed with the strategic support of Palex, a trusted and expert distributor in Spain whose role was critical in the localized integration and deployment of the solution.
This wasn’t just a software upgrade, it was a paradigm shift. By integrating SeqOne’s software, Cerba Internacional has successfully:
- Streamlined workflows to handle higher sequencing volumes
- Accelerated interpretation times, turning weeks into days
- Elevated diagnostic confidence, delivering clearer answers to clinicians and patients when they matter most.
The Challenge: Navigating Increasing Data and Rising Complexity without Compromising Precision
As NGS moved to the center of Cerba Internacional’s diagnostic strategy, the laboratory faced a paradox: the more data they generated, the harder it became to extract rapid insights.
The workflow for panels, targeted exomes, and trio exomes was growing exponentially, creating a bottleneck that legacy tools couldn’t handle. The team was trapped in a fragmented workflow, forced to manually toggle between multiple databases and external platforms to validate pathogenicity. This not only drained valuable time, but increased the risk of human error.
Óscar Rodríguez, MSc., Deputy Head of Molecular Biology at Cerba Internacional declares, “Due to the rise of NGS technologies, we've experienced a large increase in the volume of NGS studies, including both panels and targeted and whole exomes. This has led to more workload, both on the technical and the medical staff side.”
Compounding this pressure was the changing nature of the cases themselves. Clinicians faced complex pediatric cases requiring high sensitivity for mosaicism and subtly Copy Number Variations (CNVs) - variant types that often slip through the cracks of standard analytics pipelines. Cerba Internacional needed a platform that could handle the scale of high-throughput sequencing while delivering the granular sensitivity required for rare disease diagnosis.
The Solution: A Unified, AI-Powered and Clinician-Focused Platform
To achieve their goal of a seamless, high-throughput workflow, Cerba Internacional selected SeqOne: a platform that consolidated their fractured toolkit into a single, intuitive command center.
- Unified Interpretation: By integrating all essential interpretation tools, SeqOne eliminated the "tab fatigue" of switching between interfaces. Geneticists can now access pathogenicity scores, inheritance models, and phenotypic associations directly from the variant dashboard.
- DiagAI Prioritization: SeqOne’s proprietary AI variant ranking tool, DiagAI, acted as a force multiplier for the team. By instantly bubbling up the most clinically relevant variants, it allowed staff to review complex exomes methodically without getting lost in the noise.
- Enhanced Sensitivity: The platform’s specialized pipelines for CNV and mosaicism detection provided a safety net for complex cases, offering a level of reliability that the previous software simply could not match.
- Phenotype-Driven Analysis: By integrating Human Phenotype Ontology (HPO) terms, the system bridged the gap between the patient's clinical symptoms and their genetic data, while an internal repository utilized historical data to ensure consistent classification
Rodríguez emphasizes the platform's utility: “The dashboard provides a wealth of information, the AI facilitates accurate variant prioritization, and genes where compound heterozygosity is suspected are flagged. In essence, SeqOne delivers all the critical information needed for correct variant classification in a user-friendly and straightforward manner.”
The Proof: Solved - the “Invisible” Mosaic NF1 Variant
The true value of SeqOne’s sensitivity was proven in a recent, high-stakes pediatric case.
A young patient presented with a strong clinical suspicion of Neurofibromatosis type 1 (NF1). However, the initial analysis - performed using the laboratory’s legacy software - returned a negative result. The sequencing data seemed "clean," leaving the clinician without answers and the family in limbo.
Convinced the clinical signs were too strong to ignore, the team reopened the case using SeqOne.
The result was immediate. SeqOne’s algorithms detected and prioritized a pathogenic NF1 variant that the previous software had filtered out as background noise. The mutation was mosaic (present at a low allele frequency).
Because SeqOne’s pipeline is tuned to detect these subtle signals and link them to the patient’s phenotype, the "invisible" variant became clear. Cerba Internacional was able to issue a definitive diagnosis, validating the clinician’s suspicion and ending the patient’s diagnostic odyssey.
Conclusion: A Trusted Partner and New Standard in Insight Confidence
For Cerba Internacional, the SeqOne platform is a critical strategic asset. By leveraging AI-driven prioritization and high sensitivity detection, Cerba has maintained its commitment to diagnostic excellence, allowing them to scale their operations without sacrificing the personalized attention every patient deserves.
Just as importantly, Cerba Internacional emphasizes SeqOne’s collaborative, user-focused approach, noting that the platform “integrates, improves, and complements all the functionalities” of other solutions. SeqOne is not only addressing today’s demands in clinical genomics; it is redefining the standard for efficient, accurate, and clinician-centered NGS analysis.
“Having worked with and evaluated various analysis programs, we believe that SeqOne integrates, enhances, and complements all the functionalities present in them. It is currently a key tool in our daily workflow, and we wholeheartedly recommend it to any colleague involved in variant interpretation and classification,” concludes Rodríguez.
