ArticleGenomics, proteomics & bioinformatics2023
T2T-YAO: A Telomere-to-telomere Assembled Diploid Reference Genome for Han Chinese.
Article in Genomics, proteomics & bioinformatics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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41 citing papers in PubMed.
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- Navigating the pangenome coordinate system with Shredtools.bioRxiv : the preprint server for biology · 2026Article
- Genome-wide associations of structural variants with human traits through imputation from long-read assemblies.Nature genetics · 2026Article
- A genomic and epigenomic view of human centromeres.Nature reviews. Genetics · 2026Review
- The diploid reference genome of a human embryonic stem cell line.bioRxiv : the preprint server for biology · 2026Article
- Evaluating genome assemblies with HMM-Flagger.bioRxiv : the preprint server for biology · 2026Article
- Modern and Ancient Genomes Reveal Neolithic Paternal Expansions of Millet and Rice Farmers and Demic Diffusion from China into Mainland Southeast Asia.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Improved Visualization Method of DNA Sequences and its Application in Phylogenetic Analysis.Combinatorial chemistry & high throughput screening · 2026Article
- A Telomere-to-telomere Diploid Reference Genome and Centromere Structure of the Chinese Quartet.Genomics, proteomics & bioinformatics · 2025Article
- YanHuang Paternal Genomic Resource Suggests A Weakly-differentiated Multi-source Admixture in the Formation of Han Founding Ancestral Lineages.Genomics, proteomics & bioinformatics · 2025Article
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- Genome assemblies of IndianNAR genomics and bioinformatics · 2025Article
- Cell line-matched reference enables high-precision functional genomics.Nature communications · 2025Article
- Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes.Nature genetics · 2025Article
- The complete genome of a songbird.bioRxiv : the preprint server for biology · 2025Article
- Lineage-associated Human Divergently-paired Genes Exhibit Structural and Regulatory Characteristics.Genomics, proteomics & bioinformatics · 2025Article
- A complete diploid human genome benchmark for personalized genomics.bioRxiv : the preprint server for biology · 2025Article
- The reference genome of the human diploid cell line RPE-1.Nature communications · 2025Article
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42 authors.
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Abstract
Since its initial release in 2001, the human reference genome has undergone continuous improvement in quality, and the recently released telomere-to-telomere (T2T) version - T2T-CHM13 - reaches its highest level of continuity and accuracy after 20 years of effort by working on a simplified, nearly homozygous genome of a hydatidiform mole cell line. Here, to provide an authentic complete diploid human genome reference for the Han Chinese, the largest population in the world, we assembled the genome of a male Han Chinese individual, T2T-YAO, which includes T2T assemblies of all the 22 + X + M and 22 + Y chromosomes in both haploids. The quality of T2T-YAO is much better than those of all currently available diploid assemblies, and its haploid version, T2T-YAO-hp, generated by selecting the better assembly for each autosome, reaches the top quality of fewer than one error per 29.5 Mb, even higher than that of T2T-CHM13. Derived from an individual living in the aboriginal region of the Han population, T2T-YAO shows clear ancestry and potential genetic continuity from the ancient ancestors. Each haplotype of T2T-YAO possesses ∼ 330-Mb exclusive sequences, ∼ 3100 unique genes, and tens of thousands of nucleotide and structural variations as compared with CHM13, highlighting the necessity of a population-stratified reference genome. The construction of T2T-YAO, an accurate and authentic representative of the Chinese population, would enable precise delineation of genomic variations and advance our understandings in the hereditability of diseases and phenotypes, especially within the context of the unique variations of the Chinese population.
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