BOSTON--(BUSINESS WIRE)--Velsera and Sentieon are pleased to announce their joint receipt of the Best-of-Show award at Bio-IT World 2024 for their innovative NGS secondary analysis solution, Pangenotyper, which improves upon traditional linear genome reference analysis methods by optimizing both accuracy and cost efficiency.
Pangenotyper sets a new standard in NGS alignment and variant calling
Traditional NGS analysis methods do not take the diversity of human genomes into account, limiting the accuracy of genetic variant identification in both research and diagnostic applications. Specifically, NGS analysis based on linear reference genomes do not fully capture variation in non-European populations. Pangenome-based approaches ensure that genome references better represent the genomic variation in diverse populations, and there are now several tool chains that utilize this extra information to improve variant discovery. However, in practice, pangenome-based secondary analysis tends to increase false positive calls, and the tools developed up until now are slow, computationally expensive, and require new, complex bioinformatics workflows and expertise.
At Bio-IT World 2024, Velsera and Sentieon introduced Pangenotyper, a secondary analysis product that combines the best of Velsera’s pangenome-based aligner with Sentieon’s machine learning enabled DNAScope variant caller. The integrated solution overcomes the limitations of linear reference bias and delivers the highest accuracy variants while reducing cost and time to process sample data. Pangenotyper is compatible with all standard formats and tools as a drop-in replacement for traditional pipelines.
Whether for biopharma researchers re-analyzing clinical trial data for target identification or incorporating NGS into trials prospectively, or biobanks with large cohorts running population health studies, or clinical research groups with large NGS data sets supporting development of new diagnostics, Pangenotyper represents a new way of working that reduces the risk of leaving relevant, actionable variants undiscovered.
Jamie Littlejohns, CEO of Velsera, commented on the development: "Pangenotyper represents a step-change in genomics data analysis, facilitating more effective drug targeting and personalized medicine approaches. This solution directly addresses the critical needs in genomic analysis by improving both speed and accuracy of variant detection, ultimately accelerating clinical research making diagnostics more equitable."
"We are thrilled to partner with Velsera on the release of Pangenotyper," said Jun Ye, CEO at Sentieon. "This solution enables higher resolution genomic analysis with improved sensitivity and precision. It empowers researchers and clinicians to unlock deeper insights from genomic data, accelerating discoveries and driving more personalized, effective therapies. Our collaboration with Velsera represents our shared commitment to pushing the boundaries of genomic technology and advancing human health."
A collaboration to validate accuracy and performance
Pangenotyper mitigates linear reference bias, improves complex variant calls, and reduces overall running cost compared to traditional NGS alignment and variant calling pipelines. This high-performance NGS analysis solution works across whole genome, whole exome, and target panel applications.
Validation studies show Pangenotyper outperforms the current state-of-the-art tools and methods across a range of life sciences research and clinical use cases, including germline SNP and Indel calling, structural variant calling, somatic variant and Tumor Mutational Burden analysis, inherited disease trio analysis, analysis of medically relevant genes, and highly complex genomic regions such as the Major Histocompatibility complex, essential in immune system disease research.
A “bring your own data” program
Pangenotyper is available through Velsera’s Seven Bridges platform, and as a stand-alone software solution. By ensuring compatibility with common file formats, toolchains, and commodity computing hardware, Pangenotyper can readily connect to existing high-throughput workflows.
Interested parties are invited to independently confirm the performance of the solution with their data through the BYOD Program. The program is currently open to biopharmaceutical companies, clinical research organizations, biobanks, NGS technology providers, and diagnostics manufacturers with existing NGS cohorts.
About Velsera:
Velsera’s mission is to be the discovery, evidence generation, and clinical delivery platform for precision medicine. We help doctors and drug hunters make better decisions about providing the right therapy to the right patients at the right time. Velsera was founded in 2023 as a result of the merger of Seven Bridges, PierianDx and UgenTec, and operates in the US, Europe and Asia. For more information, visit www.velsera.com.
About Sentieon:
Sentieon develops award winning, extremely accurate and highly-optimized algorithms and software for bioinformatics secondary analysis applications. Sentieon is a team of professional engineers with deep expertise in algorithm, software, and system optimization focused on developing life sciences and bioinformatics applications. Using our accumulated expertise in modeling, optimization, machine learning, and high-performance computing, we strive to enable precision data for precision medicine. Visit our website for more information.
