Nature has released the largest database of human genetic variants to date

May 27, the international journal Nature and its sub-journal published a series of research papers by the Genome Aggregation Database (gnomAD) team online. The open catalogue, which brings together more than 140,000 people, is by far the largest database of human genetic variants and will help provide insight into human genetic function and enhance understanding of rare and common genetic diseases.The Genome Aggregation Database (gnomAD) project is a large-scale database of human genetic variants that aggregates data from a variety of large population sequencing projects to identify various functional loss variants.In an overview paper published in Nature, the researchers identified 443,769 predicted functional loss variants from 125,748 exosomes and 15,708 genome-wide sequencing data, used an improved human mutation rate model to classify human protein coding genes according to the spectrum that represents insensitivity, and validated the classification to determine how the method could be used to improve gene discovery for common and rare diseases.In another paper, published in Nature, the researchers clinically interpreted a particular class of rare genetic variants and explained why genes that appear to be resistant to pLoF can sometimes carry these variants with little effect: when a person carries a pLoF variant in an "insensitive" gene, the variant is usually located in an exon that shows the restrictive expression, limiting its effects.Other articles published in the same series in the journal Nature also explore how to use relevant variants to evaluate drug candidate targets to improve clinical interpretation of genetic variants, and how to examine specific functional loss variants in more detail. For example, in an article published in Nature Medicine, researchers analyzed variants of a gene associated with an increased risk of Parkinson's disease, and found that targeting the gene may be a safe treatment.Professor Daniel G. MacArthur of the Broad Institute in the United States, the project's lead scientist, said in a statement that the studies represent the first major results of the project, and that the database's strength lies in its sample size and diversity in the population it collects, thanks to the contributions of researchers from many parts of the world. Each newly published paper represents a new way for researchers to analyze the data, bringing new scientific resources to the academic community.However, 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 predictive loss-of-function variants in humans. (Biological exploration)