Predicting variant deleteriousness in non-human species: applying the CADD approach in mouse.

ABSTRACT:

Background

Predicting the deleteriousness of observed genomic variants has taken a step forward with the introduction of the Combined Annotation Dependent Depletion (CADD) approach, which trains a classifier on the wealth of available human genomic information. This raises the question whether it can be done with less data for non-human species. Here, we investigate the prerequisites to construct a CADD-based model for a non-human species.

Results

Performance of the mouse model is competitive with that of the human CADD model and better than established methods like PhastCons conservation scores and SIFT. Like in the human case, performance varies for different genomic regions and is best for coding regions. We also show the benefits of generating a species-specific model ov

SUBMITTER: Groß C 

PROVIDER: S-EPMC6186050 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature