As molecular diagnostics laboratories generate larger volumes of whole exome sequencing (WES) and whole genome sequencing (WGS) data and seek faster, more accurate clinical insights, Franklin™ by QIAGEN helps laboratories automate secondary analysis, simplify variant interpretation, and accelerate genomic workflows, enabling scientists and clinicians to transform complex sequencing data into confident clinical decisions.
Over the past decade, next-generation sequencing has transformed genomics. What was once reserved for specialized research laboratories has become an integral part of oncology, inherited disease testing, reproductive health, rare disease diagnosis, and precision medicine.
Sequencing itself has never been faster or more accessible. Yet while laboratories can now generate vast amounts of genomic data in a matter of hours, interpreting that data has become one of the greatest challenges in modern molecular diagnostics.
Secondary Analysis Is No Longer Just Bioinformatics
Secondary analysis was once viewed primarily as a computational exercise. Today, it has become a multidisciplinary process involving bioinformaticians, molecular geneticists, laboratory scientists, and clinical experts.
While sequencing technology has become increasingly automated, many downstream processes still require significant manual review. This creates an imbalance, because laboratories generate genomic data faster than they can confidently interpret it.
Delayed interpretation influences turnaround times, diagnostic efficiency, and ultimately patient care. Complex manual workflows increase the likelihood of inconsistencies between reviewers.
Meanwhile, scientific knowledge continues to evolve rapidly, making it increasingly difficult for laboratories to remain up to date with newly published evidence and variant classifications. Keeping pace with the volume of available evidence has become one of the greatest challenges facing modern molecular diagnostics.
Why Artificial Intelligence Is Changing Genomic Workflows
Artificial intelligence is beginning to reshape how laboratories approach secondary analysis. Rather than replacing scientific expertise, AI helps laboratories prioritize information, automate repetitive analytical tasks, and organize evidence more efficiently, while allowing scientists to focus on what requires human expertise: clinical interpretation and decision-making.
Franklin™by QIAGEN: Transforming Variant Interpretation into a Connected Workflow
One example of this new generation of genomic analysis platforms is Franklin™ by QIAGEN Digital Insights.
Rather than functioning as a standalone annotation tool, Franklin provides an integrated environment that supports the entire secondary analysis workflow.
How it works: Researchers and clinical laboratories can upload raw sequencing data, select validated analysis pipelines, import sample information, and receive comprehensive variant annotations within a single platform.
Its capabilities extend beyond annotation. Franklin combines AI-assisted variant interpretation, phenotype-driven prioritization, collaborative case review, and continuously updated genomic knowledge to help laboratories generate consistent and evidence-based interpretations more efficiently.
The platform also supports numerous validated assays and clinical applications, enabling laboratories to streamline workflows while maintaining flexibility across different testing strategies.
For laboratories processing increasing numbers of NGS samples, this integrated approach can significantly reduce analysis time while improving consistency and traceability.
We Help Laboratories Build Smarter Genomic Workflows
At The Science Support, we understand that implementing next-generation sequencing involves much more than selecting an instrument.
Successful genomic laboratories require integrated workflows that combine sequencing technologies, bioinformatics, variant interpretation, and scientific support.
Through innovative solutions such as Franklin™, we help molecular diagnostics laboratories, hospitals, research centres, and biotechnology organizations simplify complex genomic analysis while maintaining confidence in their results. See our complete portfolio of molecular diagnostics and genomics solutions.