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ChinaScience

China builds world’s most detailed human genome with ‘enormous’ implications for disease treatment

  • Experts hail milestone for potential benefits in precision medicine, especially among Han, the largest ethnic group in the world
  • Advances could help answer the question of who Chinese people are at the genetic level

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A newly assembled genome has addressed the remaining gaps left from the human genome first sequenced two decades earlier, and reached the “highest level of continuity and accuracy”, according to researchers.  Photo: Shutterstock Images
Victoria Bela

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 said that until now sequencing-based diagnoses had been based on an incomplete reference genome from the United States, state-owned Science and Technology Daily reported on Thursday.

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Gao, a director of respiratory and critical care medicine at Peking University People’s Hospital, said the US-based genome, which was used to judge “normality or variation”, was 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.

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To address the gap, in 2020 Gao and his research team set out to construct a reference of the Chinese genome, particularly of the Han ethnicity, the largest ethnic group in the world.

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