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Horizon Discovery and Sophia Genetics Partner to Bring Improved Molecular Profiling to Oncology Patients

17 Nov 2016
Lois Manton-O'Byrne, PhD
Executive Editor

Industry news

Sophia Genetics, a pioneer in Data-Driven Medicine, and Horizon Discovery Group plc, a world-leader in the application of gene editing technologies, today announced they have entered into a new partnership to improve the quality of Next Generation Sequencing (NGS) based genetic testing in oncology patient samples.

Under the terms of the agreement, Horizon’s HDx™ Reference Standards will be combined with Sophia Genetics’ artificial intelligence, providing hospitals and laboratories with more accurate and high quality NGS testing services, assays and genomic data analysis.

Current and future users of the Sophia DDM® analytical platform will be able to assess the quality of their NGS assays, reaching the highest levels of sensitivity and specificity. The use of HDx Reference Standards will help with performance monitoring as well as reproducibility and repeatability of NGS tests.

Jurgi Camblong, Chief Executive Officer and co-founder, Sophia Genetics, commented: “The quality of molecular profiling is a cornerstone of NGS testing and relies on a series of technical steps being performed correctly, from the collection of patient samples and DNA extraction, to creating and analyzing genomic data. Sophia Genetics helps hospitals and laboratories to make the most of their NGS testing and we are delighted to combine Horizon’s Reference Standards with our artificial intelligence for Data-Driven Medicine, increasing the number of patients that will benefit from reliable NGS genomic testing results.”

Dr. Darrin M. Disley, Chief Executive Officer, Horizon Discovery Group, commented: “Our new partnership with Sophia Genetics demonstrates the increasingly important role well validated controls have in the provision of molecular assays, especially for complex technologies such as NGS as they become more widely adopted. We look forward to working closely with Sophia Genetics as our Reference Standards become an important component of their workflows.”

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Clinical GeneticsMolecular Genetics covers the analysis of hereditary genetic disease and chromosomal abnormalities. Genetics can be analysed using DNA, RNA, and protein microarrays, PCR, RT PCR and DNA sequencing. Genetic equipment includes genetic workstations, thermal cyclers, cooling blocks and electrophoresis products. Diagnostic kits are used for DNA / RNA extraction and purification.Next Generation SequencingNext-generation sequencing (NGS), also known as whole-genome sequencing, high-throughput sequencing and massive parallel sequencing, produces and analyses thousands to millions of nucleotide sequences at once. Sequencing systems operate via varying technologies depending on the manufacturer, including sequencing by synthesis, ligation, pyrosequencing, ion semiconductor and single-molecule real-time sequencing. For NGS, library preparation is paramount to successful sequencing. In this section, explore a range of library preparation kits, from targeted, amplicon-based or hybridization-based kits including epigenomic, transcriptomic and genomic workflows to fragmentation kits. Find the best next-generation sequencing products in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.Molecular DiagnosticsMolecular diagnostics use an individual’s genetic code and gene expression to diagnose and monitor diseases. The technique is used increasingly in the field of infectious diseases and oncology, as well as areas such as coagulation, HLA typing and pharmacogenomics. Molecular diagnostics plays a pivotal role in personalized medicine.Clinical GeneticsClinical NGSNext Generation Sequencing (NGS) refers to the use of massive parallel sequencing of multiple small fragments of DNA. This high-throughput genomic analysis yields enormous amounts of sequence data, which if appropriately analyzed could have huge potential for clinical laboratories. For this to happen there are technique and bioinformatic hurdles to be overcome.Gene ExpressionCancer DiagnosticsThere are a wide variety of diagnostic tests for cancer available, and this range continues to expand as our knowledge of cancer improves. Current diagnostic methods include biopsy, imaging and blood tests for known biomarkers. New methods in research development include liquid biopsies and cancer breathalyzers.

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