Everyone’s genome has various variations, like precious “mutants”, which provide important materials for studying gene functions (1).
Regeneron Genetics Center Manuel Ferreira and Gonçalo Abecasis and other researchers analyzed the exon group sequences of 454,787 people in UK Biobank; they found more than 12 million protein coding sequence variants, of which about 1 million were gene inactivation variants (loss -of-function variants) , approximately 1.8 million are non-synonymous variants affecting gene function (deleterious missense variants) (1).
Overview of protein coding sequence variants analyzed in this work (1)
By studying the association of these variants with 3,994 health-related traits, the researchers found that 564 were significantly associated with health-related traits (P≤2.18x10^-11) gene(1).
Researchers focused on the gene (inactivating variants of the gene are related to reducing the risk of disease) , which is related to reducing the risk of disease. After all, it can more directly guide the development of neutralizing antibodies or molecular inhibitor drugs. Researchers have identified a series of genes associated with a reduced risk of hypertension diabetes and asthma (1).
researchers believe that this work reflects the value of exome sequencing; and further infer that in the future, exome sequencing analysis of millions of levels, diverse ethnic backgrounds, and phenotypic analysis will be able to predict most proteins. Variations in coding genes and health consequences (1).
More exome sequencing analysis can provide deeper insights into the functional impact of protein variations (1)
This work was published in nature on October 18, 2021 (1).
Comments: The joint analysis of
and GWAS looks promising.
Corresponding author introduction:
https://neurosurgery.uw.edu/bio/manuel-ferreira-md-phd
https://medicine.umich.edu/dept/dcmb/goncalo-abecasis-phd
References:
. J. D. Backman et al. al., Exome sequencing and analysis of 454,787 UK Biobank participants. Nature, 1–10(2021).
Original link:
https://www.nature.com/articles/s41586-021-04103-z
