Journal
GENOME BIOLOGY
Volume 20, Issue -, Pages -Publisher
BMC
DOI: 10.1186/s13059-019-1751-y
Keywords
Pan-genome; Core genome; Presence-absence variation (PAV); Genome assembly; Population-specific variation
Funding
- Cross-Institute Research Fund of Shanghai Jiao Tong University [YG2017ZD01]
- National Natural Science Foundation of China [61472246, 81572955, 81772505, J1210047]
- National Key R&D Program of China [2017YFC0908300, 2016YFC1303200]
- National Basic Research Program of China [2013CB956103]
- National High-Tech RD Program (863) [2014AA021502]
- Shanghai Science and Technology Committee [18411953100]
- Innovation Foundation of Translational Medicine of Shanghai Jiao Tong University School of Medicine [15ZH4001, TM201617, TM 201702]
- Neil Shen's SJTU Medical Research Fund
- SJTU-Yale Collaborative Research Seed Fund
- Technology Transfer Project of Science & Technology Dept. Shanghai Jiao Tong University School of Medicine
Ask authors/readers for more resources
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 29.5Mb 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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