China builds world’s most detailed human genome, with ‘tremendous’ impact on disease treatment

The lack of Asians in the genome could cause “major deviations” in diagnosing and treating patients, and could impact the development of targeted drugs, he said.

To address this gap, Gao and his research team in 2020 began building a reference genome for the Chinese people, specifically the Han Chinese, the world’s largest ethnic group.

The resulting genome was “diploid of the highest quality.” [two complete sets] In a paper published in August in the journal Genomics, Proteomics & Bioinformatics, researchers described the “human genome” collected so far.

The feat is “a milestone for our country and even the world,” Zhang Xue, an academic at the Chinese Academy of Engineering who was not an author of the paper, told Science and Technology Daily.

Sequencing the human genome has been an international mission since the Human Genome Project began in 1990. In the early 2000s, this project produced the first sequence of the human genome.

In 2022, the Telomere-to-Telomere (T2T) Consortium, a global community effort to assemble the human genome, published the complete sequence of the human genome, called T2T-CHM13.

The assembled genome addresses gaps left from the human genome first sequenced 20 years ago, reaching “the highest level of continuity and accuracy after 20 years of effort,” the paper said. There is.

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CHM13 is expected to replace the US-based reference genome GRCh38, which is the standard in research and medicine.

However, while the construction of T2T-CHM13 is a “remarkable scientific achievement,” it does not represent the genome of a “genuine human individual,” the paper said.

That’s because it originates from a “hydatidiform mole,” a nonviable fertilized egg that lacks the mother’s chromosomes, but instead has two sets of duplicated paternal chromosomes.

This also means that T2T-CHM13 is a “haploid genome”, containing only one set of chromosomes and no Y chromosome.

However, because the chromosomes are arranged telomere-to-telomere, or tip-to-tip, it is still considered a complete, gap-free genome.

The Chinese team’s reference is a diploid genome that mirrors the actual human genome and contains both sets of chromosomes as well as the Y chromosome.

The villager who provided the blood sample lives near the ruins of an ancient capital built by Tang Yao, said to be one of China’s oldest emperors. So the team named the reference genome his T2T-YAO.

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“The quality of T2T-YAO is much better than all currently available diploid assemblies,” the paper said, adding that even the haploid version of the genome is of higher quality than T2T-CHM13. .

“All evaluations of T2T-YAO confirmed that T2T-YAO is highly qualified as a reference genome,” which is an accurate representation of a real human, the research team wrote.

The Y chromosome in this particular reference was representative of the majority of China’s population, excluding people from regions such as Xinjiang and Tibet, said researcher at the Beijing Institute of Genomics, Chinese Academy of Sciences and co-lead of the study. Kang Yu told the Ministry of Science and Technology.every day.

Comparing T2T-YAO and T2T-CHM13, the researchers found approximately 330 megabases of exclusive gene sequence, 3,100 unique genes, and tens of thousands of nucleotide variations.

By comparing a patient’s sequenced genetic data to a reference genome, “healthcare providers can tailor individualized treatments according to an individual’s genetic makeup and specific disease risk,” Zhang wrote. .

Although this approach to medicine, also known as precision medicine, is still a developing field, “the potential benefits of precision medicine are huge,” Zhang said.

T2T-YAO could also help better understand the genetic and observable characteristics of the disease, “particularly in the context of the unique diversity of the Chinese people,” the paper said.

Chen Jing, an academic at the Chinese Academy of Engineering who was not an author of the paper, told Science and Technology Daily that the T2T-YAO gathering could also answer the question of who the Chinese are on a genetic level.

“Due to the limitations of sequencing technology, constructing high-quality T2T diploid genomes of genuine individuals remains difficult even after T2T-CHM13 is completed,” Zhang wrote.

Although T2T-YAO took just two years to assemble, it was the most detailed genome to date, the result of 30 years of research led by US-based scientists.

Kang said the reason this reference genome could be assembled so quickly was due to “rapid advances in DNA sequencing and splicing technology.”

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He emphasized that the efforts of scientists around the world have made the elucidation of the human genome sequence possible.

Yu Jun, former deputy director of the Beijing Genomics Research Institute, who was not an author of the paper, said the next step is to facilitate the sequencing of other genomes, including those of different ethnic groups in China.

“Eventually, we would like to launch a nationwide genome sequencing project,” Yu said.