Shuhua Xu\, PhD
Pr
ofessor\, School of Life Sciences
Fudan University
Presents\, “G
enetic Diversity and a Pangenome Reference for Chinese Populations”
Ho
sted by: Dr. Ting Wang
In-person only: Couch Building\, Rm. 6001B
Talk abstract: The Chinese Pangenome Consortium (CPC) aims to produce hi
gh-quality genomic sequences from people representative of the majority eth
nic group (Han) and the 55 other defined ethnic groups of China\, as well a
s of multiple unrecognized ethnic groups not yet characterized genetically.
In the first phase of the CPC’s pangenome project\, the CPC produced a col
lection 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 individu
als 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 o
ne or two individuals). Thus\, these data highlight the need for comprehens
ive sampling in both projects. Interestingly\, the previously unseen sequen
ces added in these CPC assemblies were enriched with genes with ancient ori
gins\, and genes associated with essential biological functions such as inf
lammation and immunity. Thus\, the CPC data could have the potential for tr
acing gaps in our understanding of human genetic evolution and for explaini
ng the heritability of complex diseases that is not explained by known vari
ants. We expect the CPC\, as part of global efforts in human genomics\, to
make a considerable contribution towards the building of high-quality pange
nome references and their application to various basic and clinical researc
h questions.