Nature: Release of the largest database of human genetic variation to date

On May 27th, local time, the international journal Nature and its sub-journal published a series of research papers by the team of the Genome Aggregation Database (gnomAD)It is reported that the public catalog of more than 140,000 people, is by far the largest database of human genetic variants, will help people understand the human genetic function, enhance the understanding of rare and common genetic diseaseshttps://doi.org/10.1038/s41586-020-2308-7Genome Aggregation Database (gnomAD) project is a large-scale database of human genetic variants that aggregatedata through a variety of large-scale population sequencing projects to identify various functionally loss-making variantsin an overview article published in Natureresearchers identified 443,769 predicted functionally loss-making variants from 125,748 exobiotic groups and 15,708 genome-wide sequencing data, using an improved human mutation rate model to classify human protein coding genes according to the spectrum representing inactivation tolerance, and to classify this method for the ability to improve common and rare disease discoveryin another article published in Nature, the researchers clinically interpreted a particularly rare genetic variant and explained why genes that seem to be resistant to pLoF can sometimes carry these mutations with little impact: When a person carries a pLoF variant in a "intolerant" gene, the variant is usually located in an exon that shows the restrictive expression, limiting its effectseries published in the other articles in the nature sub-issue, it also explores how to use correlation variants to evaluate the clinical interpretation of genetic variants by evaluating the target series of the candidate drug, and how to examine specific functional loss variants in more detailFor example, in an article published in Nature Medicine, researchers analyzed variants of a gene associated with an increased risk of Parkinson's disease, and the results suggest that targeting the gene may be a safe treatment'These studies represent the first significant results of the project,' said Professor Daniel GMacArthur of the Broad Institute, lead scientist at the, in a statementEach newly published paper represents a new perspective for researchers to analyze the data, bringing new scientific resources to the academic communityhowever, the researchers also point out that although the gnomAD database has now achieved phased results, it is still a long way from identifying all of the human predictive loss-of-function variants