As we celebrate the 70th anniversary of the discovery of the DNA structure, it is astounding to look back at the progress made in our ability to read the ‘book of life’, the DNA sequence that provides the instructions to make all living beings.
The most recent and promising advancement is certainly represented by long-read DNA sequencing technologies. Long reads started to be developed around 2010, as it was progressively acknowledged that read length is an issue to reconstruct and study genomes.
Using long reads we can now basically reconstruct entire human genomes almost without errors and prior information, as demonstrated by the completed ‘telomere-to-telomere’ of the first human genome last year.