NGS workflows for healthcare
Molecular Diagnostics
Targeted IVD assays developed using best practice principles, in accordance with your quality management system (typically ISO 13485).​
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Employ amplification-based diagnostic assays for the detection of specific targets, typically pathogens such as a bacteria or viruses. Assays can be based on PCR, QPCR (various chemistries), or an isothermal amplification method, and multiplexing can be applied for parallel detection of several targets. ​
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Combine targeted assays with NGS to generate sequence rich information, to identify small variants (SNVs, indels) and potentially other variant types. There are different formats here, from traditional amplification assays to pair with short-read sequencing, to updated amplification assays to pair with long read sequencing, for more complete results​​​. This approach has broader utility - in the case of infectious disease testing, both the pathogen and its antimicrobial resistance can be determined to help guide treatment decisions. A key application is genetic testing for targeted identification of carrier, disease, or disease-predictive states.
Clinical Genomics
Workflows that incorporate whole genome sequencing (WGS) for a more comprehensive view of the genome and/or epigenome, and higher diagnostic yield than other methodologies. ​​
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WGS can be used to investigate all types of genetic variation, ranging from small variants to CNVs, SVs, large rearrangements, complex repeats, and repeat expansions. Use WGS as a screening tool in diverse areas such as newborn screening, rare and complex disease diagnosis, cancer detection/tumour sequencing, polygenic risk score determination, pharmacogenomics, population genetics, and more.​ ​​Short read WGS is ideally suited (but not limited to) the identification of small variants and CNVs. It is a natural partner for applications where the sample DNA is short, a perfect option for NIPT or liquid biopsy testing for instance, with numerous other uses. ​Long read WGS enables unlimited investigation of the genome including dark/regulatory regions, resolution of all variant types, and can provide epigenetic and phasing information.​​​ This method can be used to detect the full scope of genetic conditions, offering significant benefits in the diagnosis of rare and complex disease. ​​​
Biopharma
Workflows for DNA or RNA analysis that can be applied to areas such as drug discovery and biomanufacturing.
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Apply the best fit NGS technology to elucidate disease mechanisms and identify novel drug or therapy targets. ​​Use custom NGS workflows to check the integrity of viral vectors in the manufacture of gene therapies e.g. adeno-associated viruses (AAVs), adenoviruses (Ads), or lentiviruses (LVs). Apply NGS to the mRNA vaccine QC process for plasmid sequence verification, determination of mRNA vaccine sequence, measurement of poly(A) tail length, and more.
Life Sciences
Fully customised workflows that demonstrate how your molecular biology tools can be applied to the above areas, or broaden their usability through compatibility with a wider range of technologies. For new molecular biology tools, this can involve the identification of human health applications that will best highlight their advantages, and design/implementation of testing approaches. You products can also be customised for compatibility with additional technologies or platforms.