High-throughput sequencing technologies have delivered unprecedented insights into human health and disease over the last decade, to the point where sequencing has become the standard approach for many clinical research applications. However, many of these technologies are limited to short sequencing reads, which makes them adept at detecting single nucleotide variants (SNVs) but limits their ability to detect other important sources of disease-associated genomic variants, including large SVs, repeats, fusion transcripts, base modifications, phasing, and transcript isoforms.
Nanopore sequencing offers researchers a cost-effective solution to these challenges, capable of delivering reads of any desired length, scalable throughput, and real-time results.
In this ebook from Oxford Nanopore Technologies, discover the advantages of nanopore sequencing for clinical research, and explore how researchers are using the technology to deliver new insights into human health and disease.