New approaches for clinical research

Overview

The widespread implementation of sequencing technologies over the last decade has delivered unprecedented insight into human health and disease; however the inherent limitations of traditional short-read sequencing technologies limit their ability to detect many important sources of genomic variation, such as structural variation, repetitive regions, phasing, base modifications, and transcript isoforms.

This white paper outlines how, through the generation of short to ultra-long reads (>4 Mb) of native DNA or RNA, nanopore sequencing overcomes these challenges to deliver the most comprehensive characterisation of the human genome available from a single technology. Real-world case studies reveal how the application of nanopore sequencing has uncovered novel insights that were hidden from view when using traditional sequencing technologies.