Headed by Professor Ye Kai, the Information and Biology Intersection Team of Xi'an Jiaotong University (XJTU) has assembled the haplotype genomes HJ-H1 and HJ-H2 of Chinese Han people.

The Contig N50 of the two sets of haplotype genome sequences is greater than 25Mb, which is more than three times that of HX1, the best Han genome. It lays the foundation for discovering complete and accurate Han-specific genetic characteristics and revealing the molecular mechanism of Han-specific traits.

HJ-H1 and HJ-H2 filled 176 and 213 gaps in the current international standard human reference genome, respectively, and obtained about 12.9 Mb and 13.4 Mb of Han-specific base sequences, which are an important supplement for the complete analysis of the entire human genome.

The release of the HJ genome is expected to become the standard genome of the Han population, which will greatly promote the development of biomedicine in China.

This research was published in the international comprehensive academic journal Basic Research sponsored by the National Natural Science Foundation of China under the title Haplotype Assembly of Chinese Han High-Quality Genomes Based on HiFi Sequencing Data. (Link to the paper: https://doi.org/10.1016/j.fmre.2022.02.005)

Professor Ye and researcher Huang Jie of National Institutes for Food and Drug Control are the co-corresponding authors. Associate Professor Yang Xiaofei from the School of Computer Science and Technology and Zhao Qianxi from the Institute of Digital Medicine, XJTU Med-X Research Institute, are the co-first authors.