Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease
Sign Up to like & getrecommendations! Published in 2018 at "Nature Communications"
DOI: 10.1038/s41467-018-03911-8
Abstract: Less than 3% of protein-coding genetic variants are predicted to result in loss of protein function through the introduction of a stop codon, frameshift, or the disruption of an essential splice site; however, such predicted… read more here.
Keywords: predicted loss; disease; plof variants; loss function ... See more keywords
Rare Variants in Inborn Errors of Immunity Genes Associated With Covid-19 Severity
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cellular and Infection Microbiology"
DOI: 10.3389/fcimb.2022.888582
Abstract: Host genetic factors have been shown to play an important role in SARS-CoV-2 infection and the course of Covid-19 disease. The genetic contributions of common variants influencing Covid-19 susceptibility and severity have been extensively studied… read more here.
Keywords: rare variants; plof variants; inborn errors; immunity ... See more keywords