What problem does it solve?
This skill addresses the challenge of predicting the functional impact of genetic variants on molecular phenotypes, such as gene expression and chromatin accessibility, by automating the interaction with the AlphaGenome deep learning model.
Core Features & Use Cases
- Automated Prediction Pipeline: Orchestrates API calls to AlphaGenome for large sets of variants, handling batching and rate-limiting automatically.
- Hail Integration: Seamlessly converts API outputs into structured Hail Tables, enabling immediate downstream multiomics analysis.
- Use Case: Researchers can use this to annotate thousands of variants from a VCF or Hail Table with functional effect scores, facilitating the prioritization of variants in complex disease studies.
Quick Start
Use the alphagenome skill to process your variant table by running the reprocess command with your specific configuration file path.