HUPAN: a pan-genome analysis pipeline for human genomes
HUPAN: a pan-genome analysis pipeline for human genomes
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Author / Creator
Duan, Zhongqu , Qiao, Yuyang , Lu, Jinyuan , Lu, Huimin , Zhang, Wenmin , Yan, Fazhe , Sun, Chen , Hu, Zhiqiang , Zhang, Zhen , Li, Guichao , Chen, Hongzhuan , Xiang, Zhen , Zhu, Zhenggang , Zhao, Hongyu , Yu, Yingyan and Wei, Chaochun
Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
The human reference genome is still incomplete, especially for those population-specific or individual-specific regions, which may have important functions. Here, we developed a HUman Pan-genome ANalysis (HUPAN) system to build the human pan-genome. We applied it to 185 deep sequencing and 90 assembled Han Chinese genomes and detected 29.5 Mb novel genomic sequences and at least 188 novel protein-coding genes missing in the human reference genome (GRCh38). It can be an important resource for the human genome-related biomedical studies, such as cancer genome analysis. HUPAN is freely available at http://cgm.sjtu.edu.cn/hupan/ and https://github.com/SJTU-CGM/HUPAN ....
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Full title
HUPAN: a pan-genome analysis pipeline for human genomes
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_44fd420e0ad54bfeb2cdbf40481faffc
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_44fd420e0ad54bfeb2cdbf40481faffc
Other Identifiers
ISSN
1474-760X,1474-7596
E-ISSN
1474-760X
DOI
10.1186/s13059-019-1751-y
