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 legacy short-read sequencing technologies limit their ability to detect many important sources of genomic variation, such as structural variants, repetitive regions, phasing, base modifications, and transcript isoforms.

In this white paper, we explore how nanopore sequencing of native DNA and RNA overcome the limitations of short-read sequencing to deliver the most comprehensive characterisation of the human genome.

In this white paper, you will:

• Learn the importance of clinical research and its recent developments
• Discover the limitations of legacy sequencing technologies
• Find out how nanopore sequencing overcomes these limitations
• Read real-world case studies of how researchers are utilising nanopore sequencing to deliver new insights that were hidden from view when using legacy sequencing technologies