ArticleCommunications biology2021
Building a Chinese pan-genome of 486 individuals.
Article in Communications biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Assembling unmapped reads reveals hidden variation in South Asian genomes.Nature communications · 2026Article
- Pan-3D Genome Analysis Reveals the Roles of Structural Variation in Chicken Chromatin Architectures, Domestication and Production Traits.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Current State of Fish Reference Genome and Pangenome: Methodologies, Sampling Strategies, Quality Assessment and Future Perspectives to Aquaculture Breeding.Marine biotechnology (New York, N.Y.) · 2025Review
- Exploration of gene presence/absence variations inOpen biology · 2025Article
- Population genomics advances in frontier ethnic minorities in China.Science China. Life sciences · 2025Review
- Beyond single references: pangenome graphs and the future of genomic medicine.Frontiers in genetics · 2025Review
- The goat pan-genome reveals patterns of gene loss during domestication.Journal of animal science and biotechnology · 2024Article
- A gentle introduction to pangenomics.Briefings in bioinformatics · 2024Review
- Beyond the Human Genome Project: The Age of Complete Human Genome Sequences and Pangenome References.Annual review of genomics and human genetics · 2024Review
- Human pangenome analysis of sequences missing from the reference genome reveals their widespread evolutionary, phenotypic, and functional roles.Nucleic acids research · 2024Article
- A pangenome reference of 36 Chinese populations.Nature · 2023Article
- The Bovine Pangenome Consortium: democratizing production and accessibility of genome assemblies for global cattle breeds and other bovine species.Genome biology · 2023Article
- A review of the pangenome: how it affects our understanding of genomic variation, selection and breeding in domestic animals?Journal of animal science and biotechnology · 2023Review
- Assembly-free discovery of human novel sequences using long reads.DNA research : an international journal for rapid publication of reports on genes and genomes · 2022Article
- Pangenomic analysis of Chinese gastric cancer.Nature communications · 2022Article
- From the reference human genome to human pangenome: Premise, promise and challenge.Frontiers in genetics · 2022Article
- Building a Chinese pan-genome of 486 individuals.Communications biology · 2021Article
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pan-genome sequence analysis of human population ancestry is critical for expanding and better defining human genome sequence diversity. However, the amount of genetic variation still missing from current human reference sequences is still unknown. Here, we used 486 deep-sequenced Han Chinese genomes to identify 276 Mbp of DNA sequences that, to our knowledge, are absent in the current human reference. We classified these sequences into individual-specific and common sequences, and propose that the common sequence size is uncapped with a growing population. The 46.646 Mbp common sequences obtained from the 486 individuals improved the accuracy of variant calling and mapping rate when added to the reference genome. We also analyzed the genomic positions of these common sequences and found that they came from genomic regions characterized by high mutation rate and low pathogenicity. Our study authenticates the Chinese pan-genome as representative of DNA sequences specific to the Han Chinese population missing from the GRCh38 reference genome and establishes the newly defined common sequences as candidates to supplement the current human reference.
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