Biomics

The article is dedicated to the 50th anniversary of rapid DNA sequencing methods, starting with the pioneering accomplishment of F.Sanger in 1975. The evolution of sequencing technologies is traced here from first-generation methods (named after Sanger and Maxham-Gilbert) to high-performance next-generation sequencing technologies, including second-generation methods designed for massive parallelism (pyrosequencing, semiconductor sequencing, ligase sequencing, and short-read fluorescent sequencing), and monomolecular sequencing approaches, including method in the form of long-read fluorescent sequencing as well as ultra-long-read nanopore sequencing. Special attention is given to the transition from quasi-genomes to complete diploid genomes with phased assembly of haplotypes in the T2T format without gaps, which ensures accurate determination of a genotype–phenotype relationship. Modern achievements are examined too, including millionfold reductions in the cost of sequencing and an increase in reading length to millions of nucleotide pairs. Prospective developments are related to the creation of even more productive fifth-generation technologies and widespread adoption of phased genome assembly. The article highlights revolutionary importance of DNA sequencing for life sciences and the need to abandon outdated approaches such as quasi-genome assembly. The article states that the genomic revolution continues, and its potential is far from exhausted.

DNA sequencing, Sanger method, Maxam-Gilbert method, NGS methods, fluorescent sequencing, monomolecular sequencing, nanopore sequencing, genome, quasi-genome, diploid genome, phased genome, T2T genome, haplotyped assembly, biological genome

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