ArticleG3 (Bethesda, Md.)2023
The first gapless, reference-quality, fully annotated genome from a Southern Han Chinese individual.
Article in G3 (Bethesda, Md.), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 25 citations in OpenAlex.
- Improved Visualization Method of DNA Sequences and its Application in Phylogenetic Analysis.Combinatorial chemistry & high throughput screening · 2026Article
- High-quality Population-specific Haplotype-resolved Reference Panel in the Genomic and Pangenomic Eras.Genomics, proteomics & bioinformatics · 2025Review
- A Telomere-to-telomere Diploid Reference Genome and Centromere Structure of the Chinese Quartet.Genomics, proteomics & bioinformatics · 2025Article
- Cell line-matched reference enables high-precision functional genomics.Nature communications · 2025Article
- Article
- Population genomics advances in frontier ethnic minorities in China.Science China. Life sciences · 2025Review
- Combining DNA and protein alignments to improve genome annotation with LiftOn.Genome research · 2025Article
- Benchmarking of bioinformatics tools for the hybridComputational and structural biotechnology journal · 2025Article
- Re-calibration of flow cytometry standards for plant genome size estimation.Frontiers in plant science · 2025Article
- Enhancing Variant Calling in Whole-exome Sequencing Data Using Population-matched Reference Genomes.Genomics, proteomics & bioinformatics · 2024Article
- Upstream open reading frames may contain hundreds of novel human exons.PLoS computational biology · 2024Article
- Systematic biases in reference-based plasma cell-free DNA fragmentomic profiling.Cell reports methods · 2024Article
- Combining DNA and protein alignments to improve genome annotation with LiftOn.bioRxiv : the preprint server for biology · 2024Article
- Upstream open reading frames may contain hundreds of novel human exons.bioRxiv : the preprint server for biology · 2024Article
- T2T-YAO: A Telomere-to-telomere Assembled Diploid Reference Genome for Han Chinese.Genomics, proteomics & bioinformatics · 2023Article
- T2T-YAO Reference Genome of Han Chinese - New Step in Advancing Precision Medicine in China.Genomics, proteomics & bioinformatics · 2023Article
- The status of the human gene catalogue.ArXiv · 2023Article
- Multiomics analysis reveals the genetic and metabolic characteristics associated with the low prevalence of dental caries.Journal of oral microbiology · 2023Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
We used long-read DNA sequencing to assemble the genome of a Southern Han Chinese male. We organized the sequence into chromosomes and filled in gaps using the recently completed T2T-CHM13 genome as a guide, yielding a gap-free genome, Han1, containing 3,099,707,698 bases. Using the T2T-CHM13 annotation as a reference, we mapped all genes onto the Han1 genome and identified additional gene copies, generating a total of 60,708 putative genes, of which 20,003 are protein-coding. A comprehensive comparison between the genes revealed that 235 protein-coding genes were substantially different between the individuals, with frameshifts or truncations affecting the protein-coding sequence. Most of these were heterozygous variants in which one gene copy was unaffected. This represents the first gene-level comparison between two finished, annotated individual human genomes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.