[Reading Science] Completed Pan-Human Genome Map... Doubled Variant Interpretation Rate

International Collaborative Research Team Announces Pan-Genome Analysis Results
Genetic Maps Created for 47 Diverse Global Ethnicities
"A Revolutionary Breakthrough in Understanding Life Phenomena and Genetic Disease Research"

International scientists have jointly completed a genetic map (pangenome) of all races existing worldwide. Although a human genetic map had already been completed, it was based on the genome analysis of only a single individual. There had been criticism that the diversity formed over a long period by various groups such as race and gender was not properly reflected. This achievement is evaluated as opening a new chapter in the study of genetic diseases while delving more deeply into the mysteries of life phenomena.

DNA data image.

The international academic journal Nature published on the 10th (local time) a paper related to the completion of the pangenome, authored by the Human Pangenome Reference Consortium, a global research team centered in the United States. This consortium was established in 2019 with the goal of mapping the entire spectrum of human genetic variation to create a comprehensive reference resource that allows comparison of various types of human sequences worldwide.

Previously, geneticists worldwide had completed a genetic map decoding the entire human genome in April 2003 through the Human Genome Project (HGP), which had been ongoing for over 20 years. It contained detailed information on the structure, organization, and function of approximately 25,000 genes. However, there were gaps. About 8% of the entire genome remained undecoded. In response, in March last year, an international geneticist consortium named Telomere-to-Telomere (T2T) succeeded in analyzing the remaining 8% using a new sequencing technique called Long-read, filling in the fine gaps.

The significance of this research lies in going beyond the previous two studies by collecting and decoding the genomes of 47 individuals from diverse races around the world, including Asia, Africa, Europe, and the Americas, rather than analyzing the genome of a single person. In particular, with the completion of this pangenome genetic map, the diagnostic rate for genetic diseases has improved more than twofold compared to using the existing single human genome map as a reference. The research team plans to further enhance the pangenome information by completing the decoding of a total of 350 genomes by mid-2024. The genomes currently being analyzed belong to individuals from 26 population groups who participated in the 2008 "1000 Genomes Project" and donated their genomes. The team thawed these frozen genomes and is reanalyzing them using the Long-read sequencing technique. This advanced technology can analyze longer DNA segments at once than previous methods and can distinguish differences between chromosome pairs of the same individual. Additionally, to comply with research ethics, races and groups such as indigenous peoples who did not consent to genome collection and analysis were excluded from the study.

Amy Lumaka, a genetics professor at the University of Li?ge in Belgium, said, "The current reference genome had problems not only with partial genetic information but also with loss of diversity," welcoming the results as "research everyone has been waiting for." Nature also stated, "When researchers use the pangenome genetic map as a reference, they can identify more than twice as many large-scale genomic changes such as gene duplications or deletions," adding that "this will help in studying the relationship between genes and diseases."