NGS: enabling biomarker discovery at single-cell resolution

Investigations using Next-Generation Sequencing (NGS), once the domain of well-funded labs, have now become mainstream in the hunt for biomarkers for various disorders – ranging from breast and colon cancers to cardiomyopathies, diabetes, congenital cataracts, liver diseases and mitochondrial disorders. The NHS Executive (NHSE) has recently announced the use of NGS-based diagnostic tests for a limited number of disorders, including certain types of cancers, starting from October 2018.1


These tests will be available in England; however, as we adopt NGS techniques at the frontline of providing care for patients, researchers like myself must look toward future applications of current technologies to precision medicine. In 2010, I wrote a review article on NGS for RNA wherein I proposed the need for single cell NGS to support the transition into personalised medicine.2 Today, we see single cell NGS beginning to gather pace in clinically relevant investigations3–7 and new long read NGS platforms are being used to improve diagnostic accuracy.7–10

NGS plays a crucial role in identifying differences between samples from disease and normal subjects at the level of DNA, RNA and epigenome. The aim of such pre-clinical investigations is not only to identify disease signatures to devise tests for diagnosis and monitor prognosis, but also to uncover actionable targets to stabilise or reverse molecular changes causing or resulting from disease.

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