hvantk:resource-gtex-eqtl

Standardize GTEx cis-eQTL summary statistics into unified Hail Tables.

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

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill requires hail, pyspark, requests, requests-mock, pytest, and includes scripts (resource) components.

What problem does it solve?

This skill addresses the complexity of integrating heterogeneous GTEx cis-eQTL summary statistics into multiomics analysis pipelines by standardizing disparate raw formats into a unified, high-performance Hail Table.

Core Features & Use Cases

  • Multi-Source Ingestion: Seamlessly processes GTEx v11 (parquet), GTEx v8 (TSV), and eQTLGen (TSV) datasets using a single builder interface.
  • Triple-Keyed Schema: Normalizes data into a (locus, alleles, gene_id) structure, enabling precise cross-table joins and downstream QTL cascade analysis.
  • Use Case: Researchers can use this to rapidly build tissue-specific eQTL tables for colocalization or variant annotation tasks without manually handling format drifts or versioning issues.

Quick Start

Use the hvantk reprocess command to build a GTEx eQTL table for Liver tissue from your local parquet directory.

Frequently Asked Questions about hvantk:resource-gtex-eqtl

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

FAQPage Schema
How do I build a Hail Table from GTEx eQTL summary statistics?

You can build a Hail Table from GTEx eQTL data by using the hvantk reprocess command to standardize raw parquet or TSV files into a unified (locus, alleles, gene_id) schema for downstream analysis.

Can I ingest both GTEx v8 TSV and v11 parquet eQTL datasets?

Yes, multi-source ingestion supports both GTEx v11 parquet and GTEx v8 TSV datasets. It applies consistent variant parsing and gene-ID normalization to standardize disparate formats into a unified Hail Table.

How do I normalize heterogeneous eQTL data for multiomics integration?

You normalize heterogeneous eQTL data by applying consistent variant parsing and gene-ID normalization to create a triple-keyed (locus, alleles, gene_id) schema, enabling precise cross-table joins and downstream QTL cascade analysis.

Do I need Hail and PySpark to process GTEx variant-gene associations?

Yes, Hail and PySpark are required dependencies to process GTEx variant-gene associations. They provide the high-performance environment required to build and query the standardized eQTL Hail Tables.

What is the best way to standardize eQTLGen TSV files for QTL cascade joins?

The best way to standardize eQTLGen TSV files for QTL cascade joins is using the builder interface that normalizes the raw TSV data into a triple-keyed (locus, alleles, gene_id) Hail Table format.