Chinese scientists have assembled the world’s most detailed human genome yet, a “landmark” event that could guide targeted drug discovery and medicine. The complete, high-quality genome – which scientists sequenced from the DNA of a “healthy young” male villager in the central Chinese province of Shaanxi – is also the first complete genome of Han Chinese. Research leader Gao Zhancheng, Director of respiratory and critical care medicine at Peking University People’s Hospital, said that until now sequencing-based diagnoses had used an incomplete reference genome from the United States, mostly derived from individuals of African and European ancestry. The lack of representation of Asians in the genome can cause “large deviations” when diagnosing or treating patients, and could affect the development of targeted drugs, he said.
To address the gap, in 2020 Gao and his research team set out to construct a reference for the Chinese genome, particularly of the Han ethnicity, the largest ethnic group in the world. The resulting genome was the “highest quality diploid human genome” assembled so far, the researchers said in a paper published in the journal Genomics, Proteomics & Bioinformatics in August. The feat is a “landmark event in our country and even the world”, Zhang Xue, Academic from the Chinese Academy of Engineering (CAE), who was not an author of the paper, told the Science and Technology Daily.
Sequencing the human genome has been an international mission since the Human Genome Project was launched in 1990. In the early 2000s, the project generated the first sequence of the human genome. In 2022, the Telomere-to-Telomere (T2T) consortium, a global community effort to assemble the human genome, presented a complete sequence of the human genome, called T2T-CHM13. This assembled genome addressed the gaps left from the human genome first sequenced two decades earlier, and reached “its highest level of continuity and accuracy after 20 years of effort”, the paper said. CHM13 is expected to replace the U.S.-based reference genome, GRCh38, that is the standard in research and medicine. However, while the assembly of T2T-CHM13 was “a remarkable scientific achievement”, it did not represent the genome of a “real human individual”, containing only one set of chromosomes, with no Y chromosome.
The Chinese team’s reference is a diploid genome called T2T-YAO, reflecting the actual human genome, containing both sets of chromosomes. While T2T-YAO took only two years to assemble, the previous most detailed genome was the result of three decades of work led by U.S.-based scientists. The new reference genome opens new prospects for precision medicine and the development of targeted drugs, the South China Morn ing Post reports.
