hvantk:resource-hgnc

Map legacy gene symbols and aliases to canonical HGNC identifiers.

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

SYSTEM DOCUMENTATION & REQUIREMENTS

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

What problem does it solve?

This Skill resolves the ambiguity of human gene nomenclature by providing a standardized, authoritative mapping between gene symbols, HGNC IDs, and various cross-references like Ensembl and UniProt.

Core Features & Use Cases

  • Standardized Mapping: Instantly convert legacy gene symbols, aliases, or previous symbols into current, approved HGNC identifiers.
  • Cross-Resource Integration: Seamlessly join disparate omics datasets by using the HGNC ID as a canonical hub for Ensembl, Entrez, and UniProt identifiers.
  • Use Case: When analyzing a multi-omics dataset where some variants are labeled with legacy symbols and others with Ensembl IDs, use this Skill to normalize all entries to a single, consistent HGNC ID for downstream analysis.

Quick Start

Use the hgnc skill to resolve the current approved gene symbol for the legacy identifier BRCA1-A.

Frequently Asked Questions about hvantk:resource-hgnc

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

FAQPage Schema
How do I normalize legacy gene symbols to current approved HGNC identifiers?

You can resolve legacy gene symbols and aliases to current approved HGNC identifiers by using this Skill's standardized lookup based on the HGNC complete-set data. It instantly maps outdated or alternative names to their canonical HGNC ID for consistent downstream analysis.

How do I map Ensembl IDs to HGNC IDs for multi-omics data integration?

To map Ensembl IDs to HGNC IDs for multi-omics integration, this Skill uses the HGNC ID as a canonical hub for cross-resource mapping. It facilitates joining disparate omics datasets by linking Ensembl, Entrez, and UniProt identifiers to standardized gene nomenclature.

Can I use Hail Tables for large-scale variant annotation with HGNC data?

Yes, you can perform large-scale variant annotation using Hail Tables with HGNC data. This Skill implements high-performance Hail Table operations to support massive genomic datasets, enabling efficient cross-reference mapping and standardized nomenclature lookup.

Do I need Hail installed to resolve human gene nomenclature using this approach?

Yes, you need Hail installed along with requests and click, as these are the required dependencies. The Skill implements high-performance Hail Table operations to execute the authoritative HGNC lookup and cross-reference mapping functions.

Why does my variant annotation fail when using legacy gene symbols across different omics datasets?

Variant annotation fails with legacy symbols due to nomenclature ambiguity across heterogeneous omics datasets. This Skill resolves the ambiguity by providing an authoritative mapping that normalizes legacy symbols, aliases, and various cross-references to a single canonical HGNC identifier.