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Top 10 international science stories of 2020

By Wang Yiming: 0 Comment(s)Print E-mail China.org.cn, January 20, 2021

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# Largest-known public catalogue of genetic variants in humans unveiled

A vast catalogue of loss-of-function variants collected from samples from more than 140,000 people will help researchers better understand gene functions and develop treatments for genetic disorders. [Photo/VCG]

The function of most genes in the human genome remains unknown. One way of discovering a gene's function to observe what happens when it is disrupted by a mutation. These variants often have adverse outcomes and are usually rare. Large genetic sequencing studies provide an opportunity to examine the effects of these loss-of-function variants, which could provide important insights into human biology and diseases.

This year, the scientific journals Nature, Nature Communications, and Nature Medicine, published the results of the latest effort: a catalogue of 443,769 predicted loss-of-function variants in 125,748 whole-exome and 15,708 whole-genome sequencing datasets, collected from samples from more than 140,000 people.

The results, compiled in the Genome Aggregation Database (gnomAD), are the most extensive publicly accessible analysis carried out so far, and will help researchers better understand the functions of genes and roots of genetic disorders as well as how to treat them.