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Diagnostics Omics, Digital and computational pathology, Technology and innovation, Genetics and epigenetics

Digitally Unleashing Your Molecular Superpowers

With its potential to revolutionize diagnosis, treatment, and outcomes for patients across multiple clinical indications, demand for next-generation sequencing (NGS) is increasing rapidly. But interpreting sequenced data – complex, lengthy, and costly – presents a bottleneck to widespread routine clinical adoption. To compound the problem, the interpretation of genetic results often still relies heavily on labor-intensive processes that only highly trained clinical scientists can offer.

Initially, we believed that achieving the US$1,000 genome would make whole-genome sequencing a reality in the clinic – but that price point only reflects the cost of generating sequence data, not the staff time, sample processing, or bioinformatic processing and interpretation required to perform this complex task. As NGS accessibility continually increases, we realize that expert interpretation is the new bottleneck. The need to augment the available expertise with automated tools is becoming increasingly apparent.

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About the Author

Nick Lench

Chief Scientific Officer at Congenica Ltd., Cambridge, and Honorary Reader at the UCL Great Ormond Street Institute of Child Health, London, UK.

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