PON-All: Amino Acid Substitution Tolerance Predictor for All Organisms.

ABSTRACT: Genetic variations are investigated in human and many other organisms for many purposes (e.g., to aid in clinical diagnosis). Interpretation of the identified variations can be challenging. Although some dedicated prediction methods have been developed and some tools for human variants can also be used for other organisms, the performance and species range have been limited. We developed a novel variant pathogenicity/tolerance predictor for amino acid substitutions in any organism. The method, PON-All, is a machine learning tool trained on human, animal, and plant variants. Two versions are provided, one with Gene Ontology (GO) annotations and another without these details. GO annotations are not available or are partial for many organisms of interest. The methods provide predictions for t

SUBMITTER: Yang Y 

PROVIDER: S-EPMC9245922 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature