Glossario IA
Il dizionario completo dell'Intelligenza Artificiale
Variant Annotation
Step that adds biological and functional information to identified variants, such as their impact on proteins and their association with diseases.
Variant Selection (Variant Filtering)
Application of qualitative and quantitative criteria to isolate relevant pathogenic variants from millions of neutral genetic variations.
Pan-human Genome (pangenome)
Genomic reference that captures the complete structural diversity of the human species, beyond the traditional single reference genome.
Gene Regulatory Network (GRN)
Computational model of interactions between genes, transcription factors, and regulatory elements that control cellular gene expression.
CRISPR-AI
Application of artificial intelligence to predict the efficiency and specificity of CRISPR-Cas9 gene editing tools.
Long-Read Sequencer (Long-Read Sequencing)
Technologies like PacBio and Oxford Nanopore that generate DNA fragments of several kilobases, improving the resolution of repetitive regions.
Polygenic Score (Polygenic Risk Score)
Quantitative measure that aggregates the effects of thousands of genetic variants to assess an individual's predisposition to a complex disease.
Population Genomics
Large-scale analysis of genetic variations within populations to identify evolutionary signatures and risk factors.
ARN-seq
Technique de séquençage haut débit de l'ARN pour quantifier et caractériser le transcriptome, révélant l'expression dynamique des gènes.
Génomique Synthétique
Conception assistée par IA de génomes fonctionnels complets pour créer des organismes avec des propriétés novatrices.
Haplotypage Computationnel
Détermination par algorithmes de l'agencement des allèles sur chaque chromosome, crucial pour l'analyse des maladies récessives.