Biomics

The year 2020 marks the 100th anniversary of the term "genome", proposed by the German botanist H.Winkler when describing parthenogenesis in the plant and animal kingdoms. The etymology of this word is unclear, but it seems to us that Winkler used a play on words, combining the morphemes "gene", "soma" and getting "genosom"(German). Then he decided to delete one syllable, which led to a short and capacious word "genome", combining genes and making them something whole, which also coincided with the endings "–ome" of individual biological terms denoting a certain set (in this case, for the genome – genes). Initially, the genome was meant as a haploid set of chromosomes, and thus the chromosomes served as an elementary unit of the genome. Now, with the advent of the ability to sequence a entire genome, its elementary unit has become a pair of nucleotides, but the chromosomes are also involved, since the nucleotide sequences are distributed in databases by chromosome, when this is possible according to the results of whole genome sequencing. Over the course of a century, scientists have changing their views on what is considered a genome, meaning its haploid or diploid nature. Now it is considered that the genome is the nucleotide sequences of the entire set of genes and other DNA fragments of a haploid set of chromosomes of a particular species of organisms, but the habitus and functional state of each organism is determined by its complete diploid genome, whereas when assembling the haploid genome a priori, certain nitrogenous bases in different alleles are ignored, since only one nucleotide is selected, which immediately reduces value of such genome, which is still very high, since sequencing the complete haploid genomes of a very large number of species of organisms of various levels of genetic complexity has given very important information about Life. However, personalized medicine of the future requires knowledge exclusively diploid genomes of people, which is still a serious problem to obtain, in contrast to the current quasi-haploid genomes, which are sequenced almost en masse. Diploid genomes of plants are also of interest, including CRISPR/Cas genome editing, when it is necessary to make changes in both alleles of paired chromosomes and to do this, it is necessary to know their possibly different nucleotide sequences. As well as at the end of such editing, whole genome diploid sequencing should be used to identify the target and non-target mutations produced. The developed approaches to whole genome sequencing, including long fragments of DNA, together with computer programs designed for data phasing have recently given rise to the new term "haplotype", which is a haplotype-specific contig. All of this will undoubtedly allow to proceed to the establishment of complete diploid genomes, which will give the term "genome" a new meaning, considering it diploid for eukaryotic organisms, which will also reflect the very essence of the organization of the genome, which has a two-parent nature.

genome, H.Winkler, gene, haploid set of chromosomes, haploid genome, quasi-haploid genome, diploid genome, plasmon, DNA, whole genome sequencing, diploid sequencing

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