A resource of variant effect predictions of single nucleotide variants in model organisms.

ABSTRACT: The effect of single nucleotide variants (SNVs) in coding and noncoding regions is of great interest in genetics. Although many computational methods aim to elucidate the effects of SNVs on cellular mechanisms, it is not straightforward to comprehensively cover different molecular effects. To address this, we compiled and benchmarked sequence and structure-based variant effect predictors and we computed the impact of nearly all possible amino acid and nucleotide variants in the reference genomes of Homo sapiens, Saccharomyces cerevisiae and Escherichia coli Studied mechanisms include protein stability, interaction interfaces, post-translational modifications and transcription factor binding sites. We apply this resource to the study of natural and disease coding varian

SUBMITTER: Wagih O 

PROVIDER: S-EPMC6301329 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature