Prediction of Deleterious Single Amino Acid Polymorphisms with a Consensus Holdout Sampler.

ABSTRACT:

Background

Single Amino Acid Polymorphisms (SAPs) or nonsynonymous Single Nucleotide Variants (nsSNVs) are the most common genetic variations. They result from missense mutations where a single base pair substitution changes the genetic code in such a way that the triplet of bases (codon) at a given position is coding a different amino acid. Since genetic mutations sometimes cause genetic diseases, it is important to comprehend and foresee which variations are harmful and which ones are neutral (not causing changes in the phenotype). This can be posed as a classification problem.

Methods

Computational methods using machine intelligence are gradually replacing repetitive and exceedingly overpriced mutagenic tests. By and large, uneven quality, deficiencies, and irregularities

SUBMITTER: Alvarez-Machancoses O 

PROVIDER: S-EPMC11288160 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature