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Clinical research white paper

White paper

Date: 21st March 2019

The promise of nanopore sequencing for clinical and cancer research

The widespread implementation of traditional sequencing technologies over the last decade has delivered unprecedented insight into human health and disease. Providing high-resolution analysis of multiple genomic loci across many samples, sequencing has become the standard approach for many clinical research applications.

While such technologies have proven adept at detecting single nucleotide variants (SNVs) in many areas of the genome, the inherent reliance on short sequencing reads (150–300 bp) limits their ability to detect other important sources of genomic variation, such as structural variation (SV), repetitive regions, phasing, and transcript isoform expression. Furthermore, the expense, large size, and infrastructure requirements of these platforms has the potential to limit their application to all but the most well resourced settings. Such centralisation of technology could lead to inequitable global access to the benefits of DNA and RNA sequencing, and increase time to result for smaller local or resource-limited laboratories.

Delivering ultra-long reads (up to 2 Mb1), real-time results, and scalable throughput — from portable to benchtop devices — nanopore sequencing offers a cost effective solution to the challenges faced by traditional sequencing platforms.

This review outlines the advantages of nanopore sequencing for the detection of a variety of genomic and epigenomic variants. Specific case studies reveal how clinical researchers are now utilising nanopore sequencing to deliver new insights into human health and disease.

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