HUPAN: a pan-genome analysis pipeline for human genomes.
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ABSTRACT:
SUBMITTER: Duan Z
PROVIDER: S-EPMC6670167 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Publications
HUPAN: a pan-genome analysis pipeline for human genomes.
Duan Zhongqu Z Qiao Yuyang Y Lu Jinyuan J Lu Huimin H Zhang Wenmin W Yan Fazhe F Sun Chen C Hu Zhiqiang Z Zhang Zhen Z Li Guichao G Chen Hongzhuan H Xiang Zhen Z Zhu Zhenggang Z Zhao Hongyu H Yu Yingyan Y Wei Chaochun C
Genome biology 20190731 1
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 ...[more]
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