ASCARIS: Positional feature annotation and protein structure-based representation of single amino acid variations.

ABSTRACT:

Background

Genomic variations may cause deleterious effects on protein functionality and perturb biological processes. Elucidating the effects of variations is critical for developing novel treatment strategies for diseases of genetic origin. Computational approaches have been aiding the work in this field by modeling and analyzing the mutational landscape. However, new approaches are required, especially for accurate representation and data-centric analysis of sequence variations.

Method

In this study, we propose ASCARIS (Annotation and StruCture-bAsed RepresentatIon of Single amino acid variations), a method for the featurization (i.e., quantitative representation) of single amino acid variations (SAVs), which could be used for a variety of purposes, such as predicting the

SUBMITTER: Cankara F 

PROVIDER: S-EPMC10562615 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature