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- Publisher Website: 10.1038/s42003-021-02556-6
- Scopus: eid_2-s2.0-85113868305
- PMID: 34462542
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Article: Building a Chinese pan-genome of 486 individuals
Title | Building a Chinese pan-genome of 486 individuals |
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Authors | |
Issue Date | 2021 |
Publisher | Nature Research: Fully open access journals. The Journal's web site is located at http://www.nature.com/commsbio |
Citation | Communications Biology, 2021, v. 4 n. 1, p. article no. 1016 How to Cite? |
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. |
Persistent Identifier | http://hdl.handle.net/10722/304834 |
ISSN | 2021 Impact Factor: 6.548 2020 SCImago Journal Rankings: 2.812 |
PubMed Central ID | |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | LI, Q | - |
dc.contributor.author | Tian, S | - |
dc.contributor.author | Yan, B | - |
dc.contributor.author | Liu, CM | - |
dc.contributor.author | Lam, TW | - |
dc.contributor.author | Li, R | - |
dc.contributor.author | Luo, R | - |
dc.date.accessioned | 2021-10-05T02:35:52Z | - |
dc.date.available | 2021-10-05T02:35:52Z | - |
dc.date.issued | 2021 | - |
dc.identifier.citation | Communications Biology, 2021, v. 4 n. 1, p. article no. 1016 | - |
dc.identifier.issn | 2399-3642 | - |
dc.identifier.uri | http://hdl.handle.net/10722/304834 | - |
dc.description.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. | - |
dc.language | eng | - |
dc.publisher | Nature Research: Fully open access journals. The Journal's web site is located at http://www.nature.com/commsbio | - |
dc.relation.ispartof | Communications Biology | - |
dc.rights | Communications Biology. Copyright © Nature Research: Fully open access journals. | - |
dc.rights | This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. | - |
dc.title | Building a Chinese pan-genome of 486 individuals | - |
dc.type | Article | - |
dc.identifier.email | Yan, B: yanbin14@hku.hk | - |
dc.identifier.email | Liu, CM: imcx@hku.hk | - |
dc.identifier.email | Lam, TW: twlam@cs.hku.hk | - |
dc.identifier.email | Luo, R: rbluo@cs.hku.hk | - |
dc.identifier.authority | Yan, B=rp01940 | - |
dc.identifier.authority | Lam, TW=rp00135 | - |
dc.identifier.authority | Luo, R=rp02360 | - |
dc.description.nature | published_or_final_version | - |
dc.identifier.doi | 10.1038/s42003-021-02556-6 | - |
dc.identifier.pmid | 34462542 | - |
dc.identifier.pmcid | PMC8405635 | - |
dc.identifier.scopus | eid_2-s2.0-85113868305 | - |
dc.identifier.hkuros | 326153 | - |
dc.identifier.volume | 4 | - |
dc.identifier.issue | 1 | - |
dc.identifier.spage | article no. 1016 | - |
dc.identifier.epage | article no. 1016 | - |
dc.identifier.isi | WOS:000692383400003 | - |
dc.publisher.place | United Kingdom | - |