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Diagnostics Genetics and epigenetics, Technology and innovation

Redefining Diagnostic Reference Standards

sponsored by Horizon

Horizon Discovery offers diagnostic reference standards in a variety of formats and genetic variants to allow researchers and clinicians to find the best process control for their diagnostic application. Reference standards can help pinpoint the fault in a workflow or serve as an assay control. Horizon’s reference standards offer a reliable, reproducible, and affordable option for increasing confidence in your diagnostic assay.

Regardless of format, Horizon’s reference standards have variants at varying allelic frequencies that mimic the complexity of biological samples seen in clinic. Typically, an allele can be found at 50 percent or 100 percent allelic frequency, depending on whether it is heterozygous or homozygous in a cell line. Blending a variant cell line with additional cell lines that harbor different mutations generates reference standards with different allelic frequencies – mimicking the heterogeneity seen in diagnostic samples. These variants have been constructed both from existing cell lines harboring the variant of interest and by inserting mutations into cell lines using genetic engineering techniques such as rAAV and CRISPR.

Horizon’s unique strategy of cell line-derived products allows the mutation to be present in the context of the whole genome at the correct genetic loci and surrounding genetic environment. Customers have identified this as an important factor when performing subsequent bioinformatic analysis and next-generation sequencing (NGS) workflow optimization using Horizon standards.

Furthermore, Horizon’s reference standards can support validation across the entire workflow – whole process control, monitoring sample DNA quality and yield, optimizing assay conditions with known variants, and fine-tuning your data reporting accuracy. They are also appropriate for most analysis techniques, including NGS, large-panel NGS, Sanger sequencing, and qPCR.

Horizon’s business is underpinned by its portfolio of cell engineering tools and services, featuring gene editing technologies such as CRISPR, base editing, and gene modulation technologies such as RNAi. Horizon supports and enables critical elements of the drug development and therapeutic value chain, particularly in precision medicine. This rich heritage of gene editing has led the way in the development of its cell line-derived reference material.

Horizon’s products are available to purchase online at:

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