ESPOO, Finland, November 23, 2017 — Euformatics, the experts in high standard NGS bioinformatics tools for genomic data quality and interpretation today (Nov. 23) announce their partnership with Horizon Discovery and the launch of the jointly developed online companion NGS validation and QC solution, OncoMatic.
“We are proud to combine our IT expertise in high-throughput sequencing bioinformatics with Horizon’s newly launched reference material in order to provide a totally new level of standards,” comments Euformatics CEO, Olli Pasanen. The solution supports the large amount of data generated through Horizon’s recently launched OncoSpan, the world’s largest DNA Multiplex Reference Standard for oncology, and is accessible free-of-charge to all OncoSpan customers. OncoMatic enables customers to upload OncoSpan NGS data after sequencing, automatically assessing the called variants, reporting on level of detection based on variant frequency data, and tracking several different quality metrics per sample.
With next generation sequencing changing the whole clinical world including test validation, diagnostic labs need and benefit from the interdisciplinary expertise of industry leaders. Previously, the overlap of known variants and the sequenced target region was very small and sensitivity was calculated using just a couple of variants. Today, it is no longer about just one or two variants in a few genes. Now, it is about large gene panels and several hundred variants. As a result, what could once be accomplished through manual methods such as scripts, spreadsheets, and paper files has become a tedious task and a major bottleneck in both validation and verification processes. “Now we bring Horizon customers the technology behind the automated analysis pipeline in our NGS QC management software, omnomicsQ and remove bottlenecks in test validation and verification, simultaneously providing better instruments for best practice guideline compliance,” says Euformatics CSO, Christophe Roos.
Euformatics is a Finnish biomedical software company that specializes in bioinformatics tools for genome data quality management and variant interpretation. Our ambition is to help medical doctors and molecular genetics laboratories in providing better precision medicine for cancer, common or rare disease diagnostics, through training and easy adoption of NGS technologies.
Horizon Discovery Group plc (LSE: HZD) (“Horizon”) is a world leader in gene editing and gene modulation technologies. Horizon designs and engineers cells using its translational genomics platform, a highly precise and flexible suite of DNA editing tools (rAAV, ZFN, CRISPR and Transposon) and, following the acquisition of Dharmacon, Inc., its functional genomics platform comprising gene knockdown (RNAi) and gene expression (cDNA, ORF) tools, for research and clinical applications that advance human health. Horizon’s platforms and capabilities enable researchers to alter almost any gene or modulate its function in human or mammalian cell-lines.