Gene-level integrated metric of negative selection (GIMS) prioritizes candidate genes for nephrotic syndrome.

ABSTRACT: Nephrotic syndrome (NS) gene discovery efforts are now occurring in small kindreds and cohorts of sporadic cases. Power to identify causal variants in these groups beyond a statistical significance threshold is challenging due to small sample size and/or lack of family information. There is a need to develop novel methods to identify NS-associated variants. One way to determine putative functional relevance of a gene is to measure its strength of negative selection, as variants in genes under strong negative selection are more likely to be deleterious. We created a gene-level, integrated metric of negative selection (GIMS) score for 20,079 genes by combining multiple comparative genomics and population genetics measures. To understand the utility of GIMS for NS gene discovery, we examined

SUBMITTER: Sampson MG 

PROVIDER: S-EPMC3832435 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature