School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, 800 Dongchuan Road, Shanghai, 200240, China.
SJTU-Yale Joint Center for Biostatistics and Data Science, Shanghai Jiao Tong University, 800 Dongchuan Road, Shanghai, 200240, China.
Genome Biol. 2019 Jul 31;20(1):149. doi: 10.1186/s13059-019-1751-y.
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 .
人类参考基因组仍然不完整，特别是对于那些特定于人群或个体的区域，这些区域可能具有重要的功能。在这里，我们开发了一种 HUman Pan-genome ANalysis（HUPAN）系统来构建人类泛基因组。我们将其应用于 185 个深度测序和 90 个组装的汉族基因组，检测到 29.5Mb 的新基因组序列和至少 188 个缺失于人类参考基因组（GRCh38）的新编码蛋白基因。它可以成为人类基因组相关生物医学研究的重要资源，例如癌症基因组分析。HUPAN 可在 http://cgm.sjtu.edu.cn/hupan/ 和 https://github.com/SJTU-CGM/HUPAN 免费获取。
