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Genetics: Reference Sequence Outlines of the Human Genome First Published (N&V) | Nature Biotechnology | Nature Portfolio

Research press release


Nature Biotechnology

May 11, 2023

First draft of a human pangenome

The first comprehensive human genome outline reference sequence was released this week.natureTo be announced in Reference Sequencing aims to collect as many DNA sequences as possible from different people. The study, based on genetic material from genetically diverse subjects (47 subjects total), takes one step closer to revealing the full picture of the human genome.


The human reference genome (standard genome sequence) has been the backbone of human genomics since its abridged version was published in 2001. However, no single genome sequence can reflect genetic diversity due to the presence of structural variants and alternative alleles, some of which are not included in the genome. original reference.


Three papers from the Human Pangenome Reference Consortium, published in Nature this week, include the first reference sequence for an overview of the human pangenome and two new publications based on this reference sequence. Genetic studies show. This comprehensive genome was generated from a group of subjects (47) of diverse ethnic origins and, when compared to the current reference genome (GRCh38), contains 119 million base pairs and 1115 gene duplications (one gene overlap). The DNA region containing overlapping genes) has been newly added. Analysis using this brief reference sequence detected 104% more structural variants than GRCh38, revealing the genetic diversity of the human genome.

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In this context, the results obtained using this brief reference sequence are presented in two simultaneously published papers. Evan Eichler and colleagues have created a map of single-nucleotide variations (SNVs) in segmental duplications (phenomena in which clusters of DNA with very high sequence identity appear at multiple locations in the genome), which we have identified so far. SNVs that did not replicate and compared with SNVs in non-overlapping DNA regions to detect differences in their mutational characteristics. On the other hand, Eric Garrison and colleagues observed a pattern of recombination between the short arms of non-homologous centromeric chromosomes (chromosomes with centromeres located near chromosome ends), and found that DNA was transferred between these chromosomes. Provided monitoring evidence indicating the mechanism to be exchanged. This exchange of DNA has so far remained speculative due to a lack of sufficient data.


These findings are only an intermediate step in a comprehensive human genome building initiative that aims to document the genetic diversity of 350 people. In this issue of Nature’s News & Views Forum, Arya Massarat and Melissa Gymrek discuss the importance of these research advances, while some remaining challenges (eg, the need to collect more diverse samples) suggest that continuous improvement is necessary to overcome the above. The problems mentioned, such as stigma, and, she says, ‘then genetic variants associated with physical and clinical features can easily be detected, and much can be expected that this will improve health conditions for people of all ages. “


other related paper,Nature Biotechnologywill be posted in

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doi: 10.1038/s41586-023-05896-x

“Nature’s Landmarks” is a translated version of a press release from Nature’s Public Affairs Division. If you need more accurate and detailed information, be sure to refer to the original article.

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