2021-11-28

The Chinese Academy of Sciences constructed a genetic variation map of Chinese people and named it “Nuwa”

By yqqlm yqqlm

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to this end, Xu Tao, academician of the Chinese Academy of Sciences and researcher of the Institute of biophysics of the Chinese Academy of Sciences, and he shunmin, researcher, worked in a team to publish an article online on cell reports to introduce the team’s work on the “nyuwa” Chinese population genome resource bank, Provide genetic variation map and reference panel genotype deduction services for Chinese population, in order to promote genetic and medical research in Chinese population

the research team analyzed the whole genome deep sequencing data (26.2x) of 2999 Chinese and named it “Nuwa”

The Chinese Academy of Sciences constructed a genetic variation map of Chinese people and named it “Nuwa”

variation quantity of nyuwa whole genome sequencing resources

based on nyuwa data resources, a genetic variation map of Chinese population including 71.06 million SNPs and 8.19 million indels was constructed and annotated comprehensively. Compared with other population cohorts, nyuwa dataset contains 25.01 million new variants, including 149000 non synonymous variants, 101000 harmful variants, loss of function variants of 11493 coding and non coding genes, and protein truncation variants of 636 cancer-related genes

a large number of new variations show that in previous genetic studies, the variation representation of Chinese population is insufficient, and nyuwa genome resources fill this gap

in addition, according to the notes of clinical related databases, 1140 pathogenic variants were found in nyuwa, as well as the variation frequency difference between Chinese population and other populations in the world at pharmacogenomics related sites and cancer risk sites. These findings contribute to the research of precision medicine in Chinese population and may promote new genetic and medical progress

compared with other reference panels, the nyuwa reference panel reduces the error rate of genotype deduction of Han population by 30% – 51%, and also has excellent performance in most other East and Northeast Asian populations