OncoSpan, the world’s largest multiplexed oncology control, featuring 385 variants across 152 key cancer genes, has been specially designed using bioinformatics and droplet digital PCR, to help drive faster, easier, and more complete validation of oncology gene panels and exome sequencing assays. Horizon’s expert team has extensively characterized the background genome of OncoSpan using high coverage exome sequencing, which is provided to customers as batch-specific exome sequence data.
Horizon is, for the first time, also offering an online companion NGS QC solution called OncoMatic, developed in partnership with Euformatics to support the large amount of data generated through OncoSpan. Access to OncoMatic will be provided free-of-charge to all OncoSpan customers. The platform enables customers to upload OncoSpan NGS data after sequencing, automatically assessing the called variants, reporting on variant frequency data, and tracking several different quality metrics per sample.
The combination of OncoSpan and OncoMatic thereby provide access to the most accurate Reference Standard truth set for use during the establishment and validation of critical NGS bioinformatics pipelines, saving costs and helping to maintain compliance with standards such as those set by the College of American Pathology (CAP) and EuroGentest.
“Horizon has an established leadership position in the development of genetically defined reference standard materials, drawing on our distinctive ability to drive innovation, both internally and industry-wide,” commented Dr. Darrin M Disley, CEO of Horizon Discovery Group plc: “The development of large-scale, commutable Reference Standards for oncology, such as OncoSpan, along with the companion QC tool OncoMatic, will ultimately benefit patients through further enabling the development of personalized therapy solutions. Euformatics has proven to be the ideal partner for this project, and we look forward to collaborating with them on similar ventures in the future.”
About Horizon’s Reference Standards
There are many potential sources of variability that can lead to molecular diagnostic tests providing erroneous results. Horizon’s Reference Standards offer a source of genetically defined, quantitative, sustainable and independent third-party reference material, critical to the validation and routine performance monitoring of assays, providing an unprecedented level of control. Horizon Reference Standards are available in a broad range of formats, including Formalin-Fixed Paraffin-Embedded (FFPE) cell line sections, purified genomic DNA (gDNA), and cell-free DNA (cfDNA) on its own or spiked into synthetic plasma.
Glossary
- Assay: a laboratory procedure measuring the presence, amount, or functional activity of a specific biomarker or analyte
- Bioinformatics: the collection, classification, storage, and analysis of biochemical and biological information especially as applied to molecular genetics and genomics
- Exome: the part of the genome formed by exons, the sequences which when transcribed remain within the mature RNA after introns are removed by RNA splicing
- Next Generation Sequencing (NGS): high-throughput sequencing of DNA (or RNA) by parallelizing the sequencing process, producing thousands or millions of sequences concurrently
- Reference standard: a standardized substance (e.g. DNA, protein) which is used as a measurement base or control for an assay
- Variant: any alteration in a DNA sequence from the most common form
About Euformatics www.euformatics.com
Euformatics is a Finnish biomedical software company that specialises in bioinformatics tools for genome data quality management and variant interpretation.
Euformatic’s 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.