Analysis of stop-gain and frameshift variants in human innate immunity genes.

ABSTRACT: Loss-of-function variants in innate immunity genes are associated with Mendelian disorders in the form of primary immunodeficiencies. Recent resequencing projects report that stop-gains and frameshifts are collectively prevalent in humans and could be responsible for some of the inter-individual variability in innate immune response. Current computational approaches evaluating loss-of-function in genes carrying these variants rely on gene-level characteristics such as evolutionary conservation and functional redundancy across the genome. However, innate immunity genes represent a particular case because they are more likely to be under positive selection and duplicated. To create a ranking of severity that would be applicable to innate immunity genes we evaluated 17,764 stop-gain and 13,91

SUBMITTER: Rausell A 

PROVIDER: S-EPMC4110073 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature