GeneralSubhra/variant-analysis-evo2

a web app that can classify how likely specific mutations in DNA are to cause diseases (variant effect prediction). We will deploy and use the state-of-the-art Evo2 large language model, and use it to predict the pathogenicity of single nucleotide variants (SNVs)

29
/ 100
Experimental

This tool helps researchers, clinicians, or anyone interested in genetics quickly determine if a specific DNA mutation is likely to cause disease or is harmless. You input a DNA mutation, and the system outputs a prediction (pathogenic or benign) with a confidence score, comparing it against real clinical databases. It's designed for anyone needing to understand the impact of genetic changes, even without a deep biology background.

Use this if you need to rapidly assess the potential disease-causing nature of specific DNA mutations and compare these predictions with established medical classifications.

Not ideal if you need to perform complex population genetics studies or analyze entire genomes for novel mutation discovery.

genetics clinical-genomics variant-interpretation disease-risk bioinformatics
No Package No Dependents
Maintenance 10 / 25
Adoption 6 / 25
Maturity 13 / 25
Community 0 / 25

How are scores calculated?

Stars

16

Forks

Language

TypeScript

License

Apache-2.0

Last pushed

Feb 21, 2026

Commits (30d)

0

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