The journal Nature has published the "first draft" of the human pangenomic reference, which aims to ultimately represent as many DNA sequences as possible in the human species. This study provides a more complete picture of the human genome. Since the draft was issued in 2001, the human reference genome has been the pillar of the human genome. However, due to structural variations and the presence of alternative alleles, some individual genomes cannot represent the genetic diversity of human species. In the collection of papers, the "Human Pangenomic Reference Alliance" proposed the first human pangenomic reference sketch and two discoveries using this reference as a basis for new genetic research. Pangenome was developed from an array of 47 individuals with different ancestors, adding 119 million base pairs and 1115 gene repeats (one DNA region contains a variation of one gene repeat) to the current reference human genome (GRCh38). Using this sketch, the number of structural variations detected increased by 104%, providing a more complete picture of the genetic diversity of the human genome. Two articles published simultaneously proposed relevant findings using the human pangenomic sketch. Among them, the University of Washington School of Medicine has developed a single nucleotide variation (SNV) map with fragment repeat sequences (repeated at more than one site in the genome and sharing highly identical DNA regions), which describes millions of previously unpainted SNVs and their different variation properties from single DNA. The School of Health and Humanities at the University of Tennessee observed recombination patterns between the short arms of heterocentric chromosomes (with the middle segment located near the end of the chromosome), providing evidence for a DNA exchange mechanism between chromosomes (which was previously speculated to exist, but was not observed due to a lack of suitable data). These achievements are only a transitional stage in the prospect of human pangenomics, with the aim of obtaining data on 350 individuals with genetic diversity. The views and articles published at the same time suggest that some existing challenges need to be overcome, such as more diverse sampling, which will ultimately bring benefits to the health of more people. The human genome contains about 3.1 billion DNA base pairs. In general, the human genome is very similar, but the small differences in DNA sequences also make each individual different. The Human Pangenomic Reference Consortium (HPRC) aims to create a more accurate and complete human reference genome that reflects the diversity of the world's population. Last year, HPRC explained the goals and strategies of the Pan Genome project in Nature. This year, Nature published the first human pan genome reference sketch and the research results obtained therefrom. The plan will continue to advance, and eventually create a complete reference sequence of the human genome to embrace the future of genetics. (New News Agency)
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