Article

A Semantic + Neuronal Approach to Predict Pathogenic Variants in DNA Sequences

2026-08-20

Abstract excerpt

In this work, we present a machine learning model for identifying pathogenic DNA variants. The model was learned from the analysis of normal and pathogenic sequences extracted from the ClinVar database (supported by NCBI). This analysis was based on a conceptual semantic model of DNA sequences converted to peptide sequences (amino acid sequences) governed by a well-defined grammar, which allowed us to apply NLP te...

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Literature Corpus work: deabed03-ef1a-5722-85e5-4e81c9ec35d2
DOI: 10.64898/2026.08.16.745093

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