The 1000 Chinese Pangenome empowers medical and population genetics - PubMed
4 hours ago
- #Pangenome
- #Genetic Variation
- #Medical Genetics
- The 1000 Chinese Pangenome project generated 1,116 diploid genome assemblies, expanding the reference genome by 405.3 million base pairs of non-reference sequences.
- This pangenome includes extensive genetic variations such as structural variants, tandem repeats, and nested variants, enabling detailed study of medically relevant genetic elements.
- Pan-variant eQTL mapping identified 3,256 eQTLs involving complex variants, revealing their regulatory roles in gene expression.
- A pan-variant imputation reference panel was developed to improve genetic association studies by providing multitype markers.