Shuhua Xu, PhD

Professor, School of Life Sciences
Fudan University

Presents, “Genetic Diversity and a Pangenome Reference for Chinese Populations”
Hosted by:  Dr. Ting Wang
In-person only:  Couch Building, Rm. 6001B
Talk abstract: The Chinese Pangenome Consortium (CPC) aims to produce high-quality genomic sequences from people representative of the majority ethnic group (Han) and the 55 other defined ethnic groups of China, as well as of multiple unrecognized ethnic groups not yet characterized genetically. In the first phase of the CPC’s pangenome project, the CPC produced a collection of 116 high-quality genome assemblies from 58 core individuals (one assembly for each of the two sets of chromosomes that each person carries) representing 36 non-Han Chinese ethnic groups. The CPC assemblies add 189 million base pairs of loosely packaged sequences that vary between individuals and duplications of 1,367 protein-coding genes that were not included in the widely used reference genome GRCh38. More than half of the sequences or variants uncovered in the CPC or HPRC data and not previously captured in reference genomes showed an extremely low frequency (occurring in only one or two individuals). Thus, these data highlight the need for comprehensive sampling in both projects. Interestingly, the previously unseen sequences added in these CPC assemblies were enriched with genes with ancient origins, and genes associated with essential biological functions such as inflammation and immunity. Thus, the CPC data could have the potential for tracing gaps in our understanding of human genetic evolution and for explaining the heritability of complex diseases that is not explained by known variants. We expect the CPC, as part of global efforts in human genomics, to make a considerable contribution towards the building of high-quality pangenome references and their application to various basic and clinical research questions.