CORDIS Project
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This project aims to enhance the understanding of how genetic mutations affect human health by developing a new algorithm that combines evolutionary models and protein folding theories. The goal is to predict the impact of mutations on protein function and stability, thereby improving disease diagnosis and treatment op…
Genome sequencing has grown exponentially, but determining the phenotypic consequences of mutations remains a key challenge in human genetics.
Recently, unsupervised methods, which model the distribution of sequence variation across organisms, have emerged as promising tools for quantifying the clinical pathogenicity of variants, rivaling the accuracy of experimental approaches.
However, these machine learning predictors fall short in discerning the effects induced by pathogenic mutations that i…
FUNDACIO CENTRE DE REGULACIO GENOMICA
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