alphagenome

Predict functional effects of genetic variants using the AlphaGenome API.

Updated Feb 2, 2024
One-click install
npx skills add https://github.com/bigbio/hvantk --skill alphagenome
Or copy as Structured Prompt for Agent
Please help me install this Agent Skill.
Skill: alphagenome
Source: https://github.com/bigbio/hvantk/tree/main/hvantk/skills/alphagenome
Command: npx skills add https://github.com/bigbio/hvantk --skill alphagenome

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill requires hail, pyyaml, requests, and includes scripts (resource) components.

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.

Frequently Asked Questions about alphagenome

High-intent search queries and answers about installing and using this skill.

FAQPage Schema
How do I predict functional effects of genetic variants on molecular phenotypes?

To predict functional effects of genetic variants on molecular phenotypes, you can use the alphagenome skill to automate AlphaGenome API calls and convert outputs into structured Hail Tables for analysis.

What is the best way to annotate thousands of variants from a VCF for multiomics analysis?

The best way to annotate thousands of variants for multiomics analysis is using an automated pipeline with batching, checkpointing, and retry logic to process VCF or TSV data into standardized annotation tables.

Does alphagenome work with Hail Tables for downstream variant analysis?

Yes, alphagenome works with Hail Tables by seamlessly converting AlphaGenome API outputs into structured Hail Tables, enabling immediate downstream multiomics analysis of variant functional scores.

How do I handle rate-limiting when running large-scale variant predictions with deep learning APIs?

To handle rate-limiting during large-scale variant predictions, the pipeline implements automated batching, checkpointing, and retry logic to ensure robust API interaction across large genomic datasets.

Can I use TSV files as input for variant effect prediction with AlphaGenome?

Yes, you can use TSV files as input for variant effect prediction; the skill integrates variant data from both TSV files and Hail Tables into standardized annotation tables for processing.

What are the limitations of using deep learning models for variant annotation in complex disease studies?

A limitation of using deep learning models for variant annotation is the need for automated retry logic to handle API rate-limiting, requiring robust pipelines to process large-scale genomic datasets effectively.