Identifying pathogenicity of human variants via paralog-based yeast complementation.

ABSTRACT: To better understand the health implications of personal genomes, we now face a largely unmet challenge to identify functional variants within disease-associated genes. Functional variants can be identified by trans-species complementation, e.g., by failure to rescue a yeast strain bearing a mutation in an orthologous human gene. Although orthologous complementation assays are powerful predictors of pathogenic variation, they are available for only a few percent of human disease genes. Here we systematically examine the question of whether complementation assays based on paralogy relationships can expand the number of human disease genes with functional variant detection assays. We tested over 1,000 paralogous human-yeast gene pairs for complementation, yielding 34 complementation relation

SUBMITTER: Yang F 

PROVIDER: S-EPMC5466341 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature