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by bayesian_horse 3063 days ago
Virtually all applications can benefit from long reads. There are already hybrid assemblers out there which take Illumina, Pacbio and Nanopore reads. The long reads tie the short reads together, whereas the short reads improve the accuracy.

The area where DNA sequencing will first be revolutionizing clinical practice is in sequencing pathogens for sake of identification. In these instances nanopore sequencing rules, because it can give answers in minutes.

1 comments

Most clinical applications don’t need long reads. Pathogen identification from short reads is easy. Blood tests for cancer, and NIPT (which will likely be the first big applications) both use fragmented DNA in the blood, so long reads are not useful. Depth (lots of sequencing) and quality are far more important.
It's worth noting that those clinical applications were developed when technology didn't allow long reads, so "clinical applications don't need long reads" is at present a truism. There may be potential applications that require long reads that simply couldn't have been invented yet (albeit I haven't the slightest what those would be.)
Yes, but I would say quality is most important in almost all cases. Well, quality being defined as <1% error rate, which isn’t such a high bar.

The most compelling near term applications (NITP etc) use fragmented DNA, and long reads will have no benefit here.

So, yes. Long reads are useful, but you need to have at least reasonable performance in other respects. The same thing has been seen with PacBio, who have not played well in the market, despite having a read length advantage.

How long does it take to get the answer? Even if a big, expensive short read sequencing machine is in the building, it still takes a day or two to reach the necessary data.

With sepsis, every hour counts.