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Chinese Journal of Nature >

2024 , Vol. 46 >Issue 2: 88 - 94

DOI: https://doi.org/10.3969/j.issn.0253-9608.2024.02.002

Invited Special Paper

T2T human reference genomes mark the new starting point of the precision medicine era

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  • Beijing Institute of Genomics, Chinese Academy of Sciences/China National Center for Bioinformation, Beijing 100101, China

Received date: 2024-02-19

  Online published: 2024-04-19

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Abstract

Driven by the rapid advancement of DNA sequencing technology, human genome research entered the era of “telomere to telomere (T2T)”. The central hallmark of this era is achieving high-quality and high-continuity linear assembly of every human chromosome molecule, from telomere to telomere, which could be served as the gold standard for quality control in precision medicine. This enables accurate and stable identification of individual variation information. The complete assembly of an increasing number of individual genomes has revealed significantly higher levels of human genome variations than initially anticipated. It has also provided a crucial theoretical foundation for each population to utilize its own reference genome for variation analysis. By employing a closely matched reference genome, it would be more precise in identification and locating individual variations. Dataset of accurate variation information forms the fundamental basis for studying the association between variations and phenotypes in precision medicine. This novel paradigm based on population-based genome analysis and research will undoubtedly have a significant impact on the future development of precision medicine.

Key words： Human Genome Project, sequencing technology, telomere to telomere (T2T) genome assembly, reference genome, ; precision medicine, big data of medical genomics, genomic diagnosis and therapy

Cite this article

KANG Yu . T2T human reference genomes mark the new starting point of the precision medicine era[J]. Chinese Journal of Nature, 2024 , 46(2) : 88 -94 . DOI: 10.3969/j.issn.0253-9608.2024.02.002

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