cosmic-cgc

Process and annotate COSMIC Cancer Gene Census data for Hail-based multiomics variant analysis.

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

SYSTEM DOCUMENTATION & REQUIREMENTS

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

What problem does it solve?

This skill addresses the complexity of integrating curated cancer gene data into multiomics pipelines, providing a standardized way to filter and analyze genes with causal roles in human cancer.

Core Features & Use Cases

  • Standardized Annotation: Normalizes COSMIC Cancer Gene Census (CGC) data, including tier classifications and mutation contexts, for seamless integration with Hail-based workflows.
  • Flexible Filtering: Enables precise subsetting of genes based on mutation context (somatic/germline), tier level, or role in cancer (oncogene/TSG/fusion).
  • Use Case: A researcher can use this skill to filter a large variant dataset to only include genes classified as Tier 1 somatic oncogenes to prioritize potential driver mutations in a tumor sample.

Quick Start

Use the hvantk reprocess cosmic-cgc:submissions command to build the annotated gene table from your raw input file.

Frequently Asked Questions about cosmic-cgc

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

FAQPage Schema
How do I integrate the COSMIC Cancer Gene Census into a Hail variant analysis pipeline?

You can integrate COSMIC CGC data into a Hail pipeline by using a specialized command to reprocess and annotate the raw dataset, generating a normalized Hail table with tier classifications and mutation contexts for multiomics workflows.

Can I filter cancer genes by somatic mutation context and tier level using Hail?

Yes, you can filter cancer genes by somatic mutation context and tier level using Hail. This approach enables precise subsetting of the CGC dataset to isolate genes with specific causal roles in human cancer for targeted analysis.

How do I resolve gene symbols to HGNC IDs for cancer genomics annotation?

Resolving gene symbols to HGNC IDs for cancer genomics annotation is achieved programmatically during the COSMIC CGC data processing step, ensuring standardized gene identification and provenance-tracked output for reproducible research.

Does this COSMIC annotation approach support filtering for oncogenes and tumor suppressor genes?

Yes, this COSMIC annotation approach supports filtering for oncogenes and tumor suppressor genes. It allows precise subsetting based on the specific role a gene plays in cancer, alongside mutation context and tier classifications.

What dependencies do I need to run Hail-based cancer variant annotation?

To run Hail-based cancer variant annotation, you need the Hail framework and the pandas library installed. These dependencies facilitate the table operations and data normalization required for processing the CGC dataset.

When should I use Tier 1 somatic oncogene filtering for tumor sample variant datasets?

Use Tier 1 somatic oncogene filtering for tumor sample variant datasets when you need to prioritize potential driver mutations. This filters the dataset to include only highly curated genes with established causal roles in human cancer.