Whole genome single nucleotide variation database established

Xu Shuhua's team analyzed and commented on the frequency of human Mendel's genetic disease association through genome-wide deep sequencing technology, collecting and integrating public human human genome data, obtaining more than 250 million human mononucleotide variants, and analyzing and commenting on the frequency of variation frequency, gene diversity, group differentiation, functional effect, evolutionary conservatism, natural selection signal, chain imbalance, etcThe study found that 7% of previously reported rare disease risk variants were in high frequency in many populations, suggesting that the rarity of mutations in disease analysis was not the gold standard for determining the mutation's association with the disease, and that mendel disease mutations varied in frequency between different populations, indicating differences in the genetic load of different populationsstudy, the researchers also compared the PGG.SNV database with the currentwide gnomAD database, arguing that the gnomAD database, which is dominated by Western scholars, does not represent the diversity of human communities wellNearly half of the genomes come from Western populations, with only 9% of the genomes of the African population with the highest genetic diversity, and data for the representative Asian population are lackingEspecially when the subject is a specific Asian population, the practical application value of the gnomAD database is limited.