HUPAN: a pan-genome analysis pipeline for human genomes

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 assemb...

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Detalles Bibliográficos
Autores principales: 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, Wei, Chaochun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6670167/
https://www.ncbi.nlm.nih.gov/pubmed/31366358
http://dx.doi.org/10.1186/s13059-019-1751-y
Descripción
Sumario: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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13059-019-1751-y) contains supplementary material, which is available to authorized users.

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