Opportunities and challenges in long-read sequencing data analysis
Long reads: their purpose and place
Long-read sequencing, or third-generation sequencing, offers a number of advantages over short-read sequencing. While short-read sequencers such as Illumina’s NovaSeq, HiSeq, NextSeq, and MiSeq instruments; BGI’sMGISEQand BGISEQmodels; or ThermoFisher’s Ion Torrent sequencers produce reads of up to 600 bases, long-read sequencing technologies routinely generate reads in excess of 10 kb
Long-read technologies are improving rapidly, and may become the mainstay of sequencing; however, the broader application of long-read technologies are currently limited by a lower throughput, higher error rate and higher cost per base relative to short read sequencing. Wider use of such technologies in the clinical context may rapidly improve our understanding of cancer, pathogen evolution, drug resistance and genetic diversity in complex regions of the genome that have important implications for clinical care. Parallel development of existing technology to allow high throughput PCR-free sequencing will be important in sequencing difficult regions of the genome.
At present, no single long-read technology has any clear advantage from a scientific point of view, and thus it seems likely that the future of long-read sequencing is more likely to be decided on commercial terms rather than scientific. Whichever technology captures the market, it is clear that as these technologies become more affordable they will continue to shine a light into previously intractable regions of the genome with ever larger sample sizes and longer read-lengths, allowing new discovery in these evolving fields.
Just looking at stock exchange you may confirm that the decision is being made in commercial terms. It seems that there is a role for a cost-effectiveness evaluation right now.
Robert Frank, València 1952
