An accurate pipeline for predicting the pathogenicity of human exon structural variants
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Jul 30, 2023 - Perl
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pathogenicity-prediction
Here are 5 public repositories matching this topic...
AI-powered variant pathogenicity prediction for cancer genes using Evo2-7B evolutionary foundation model. Combines deep learning, VEP annotation, gnomAD frequencies, and explainable AI for precision oncology. Built with Next.js + Modal + PostgreSQL.
python machine-learning bioinformatics typescript genomics nextjs modal cancer-research variant-analysis precision-medicine dna-sequencing evo2 fastapi pathogenicity-prediction clinical-genetics
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Jul 21, 2026 - Python
Supplementary Data for Pillai et al., 2026.
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Feb 19, 2026 - Python
DevScore: predicting variant pathogenicity through developmental gene expression timing
bioinformatics genomics computational-biology gene-expression transcriptomics variant-interpretation pathogenicity-prediction developmental-genetics
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Aug 8, 2026 - Python
A CLI-operated bioinformatics platform for gene variant pathogenicity screening and computational gene therapy candidate identification. Integrates an AI interpreter to generate biologically grounded hypotheses based on PRISM result data, and proposes experimental follow-ups. Includes project system file navigation + accession for workflow ease.
bioinformatics genetics command-line-tool algorithm-design pathogenicity-prediction pathogenicity-classification
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Dec 27, 2025 - Python
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