Recently, the research groups of Prof. XU Tao and Prof. HE Shunmin from the Institute of Biophysics of the Chinese Academy of Sciences reported the genome resource NyuWa of Chinese genetic variation map and reference panel, in order to promote genetic and medical research in Chinese population. This study was published in Cell Reports.

The deep whole-genome sequencing (WGS) data were named as the mother goddess NyuWa, who was the creator of the human population in Chinese mythology. A high-quality genetic variation database was constructed, and a webserver of imputation service with the reference panel for the Han Chinese population was provided.

The NyuWa genome resource includes a total of 71.1 million single nucleotide polymorphisms (SNPs) and 8.2 million small insertions or deletions (InDels).

Based on the NyuWa genome resource, a reference panel of 5,804 haplotypes and 19.3 million variants was constructed, of which 3.25 million specific variants are not included in other panels. Compared with other panels, the NyuWa reference panel reduces the Han Chinese imputation error rate by a margin ranging from 30% to 51%. The imputation web server is publicly available on the NyuWa website.

Besides, samples from the NyuWa reference panel were divided into northern and southern subsets in the light of genetic differences between northern and southern Han Chinese people. Imputation performances were compared on independent public datasets, and the results confirmed the applicability of one integrated panel for both northern and southern Chinese.