Prediction of pathogenic single amino acid substitutions using molecular fragment descriptors.

ABSTRACT:

Motivation

Next Generation Sequencing technologies make it possible to detect rare genetic variants in individual patients. Currently, more than a dozen software and web services have been created to predict the pathogenicity of variants related with changing of amino acid residues. Despite considerable efforts in this area, at the moment there is no ideal method to classify pathogenic and harmless variants, and the assessment of the pathogenicity is often contradictory. In this article, we propose to use peptides structural formulas of proteins as an amino acid residues substitutions description, rather than a single-letter code. This allowed us to investigate the effectiveness of chemoinformatics approach to assess the pathogenicity of variants associated with amino acid substitu

SUBMITTER: Zadorozhny A 

PROVIDER: S-EPMC10435372 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature