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Traditional sequencing technologies over the last decade have 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.
Whilst these 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
- Repetitive regions
- Phasing
- Transcript isoform expression
Oxford Nanopore’s DNA/RNA sequencing technology delivers ultra-long reads (up to 2 Mb), enabling rapid and comprehensive analysis of variants. With devices scalable from portable to benchtop, nanopore sequencing offers a cost-effective solution to the challenges faced by traditional sequencing platforms.
Read on to hear from experts in clinical research and nanopore sequencing to see how they’re utilising nanopore technology to deliver new insights into human health and disease.
