The genome-wide database of single-nucleotide variations, newly established by the Chinese academy of sciences, has collected more than 200,000 genomes, covering more than 800 living human populations and more than 100 extinct ones derived from ancient DNA research. It is helpful to further analyze the function and phenotypic effect of human genome variation, which is of great value to the evolutionary inheritance and medical research of population in China and surrounding countries.

Team depth through whole genome sequencing technology, collection and integration of the public human genome data, and obtained more than 250 million human single nucleotide mutation, the mutation frequency, genetic diversity and population differentiation, functional effect and conservative evolution, natural selection signal and linkage disequilibrium analysis and comments, the human Mendelian genetic diseases associated with variable frequency is analyzed. The study found that 7% of previously reported rare disease risk variants were at high frequency in many populations, suggesting that the rarity of mutations in disease analysis is not the gold standard for determining the association between such variants and disease. There were differences in the frequency of Mendelian disease mutations in different populations, indicating that there were differences in genetic loads in different populations.

In the study, the researchers also compared the pgg.snv database with the widely used gnomAD database, which was dominated by western scholars and failed to represent the diversity of human population.Nearly half of the genomes come from western populations, with Africa, which has the highest genetic diversity, accounting for just 9 per cent, and data on a representative Asian population is lacking.The practical application value of gnomAD database is limited, especially when the research object is specific Asian population.

Source: http://www.xinhuanet.com

Time: 2019.11.26