NyuWa, or NüWa, is the mother goddess who was the creator of the human population in Chinese mythology. Here we presented the NyuWa genome resource based on high depth (median 26X) WGS of 2,999 Chinese individuals from 23 out of 34 administrative divisions in China. NyuWa Genome Resource present in this website mainly contains two parts as NyuWa Chinese Population Variant Database and NyuWa reference panel server.
NyuWa Chinese Population Variant Database(NCVD) archives 71 million (M) SNPs and 8 M indels from NyuWa dataset, and comprehensively annotates the variants on allele frequency in our Chinese dataset and external datasets (including 1KGP3, gnomAD v3.0). Besides, Variant quality metrics, genome region annotation, nonsynonymous impact, loss of function predict, clinical annotation, pharmacogenomics annotation are also collected and presented.
NyuWa haplotype reference panel was constructed using 19,256,267 SNPs and short indels with minor allele count >= 5 (MAC5, approximately MAF > 0.1%) in 2,902 independent samples, in which 77.2k (0.4%) were novel variants in NyuWa dataset. Compared with 4 other public available reference panels including 1KGP3, Haplotype Reference Consortium release 1.1 (HRC.r1.1), GAsP and TOPMed r2, NyuWa reference panel had 3.25M specific variants not included in other panels.