genomic-variants

Execute germline and somatic variant calling with GATK, PLINK2, and VEP.

29|3|Updated Jun 11, 2026
One-click install
npx skills add https://github.com/inflexa-ai/inflexa --skill genomic-variants
Or copy as Structured Prompt for Agent
Please help me install this Agent Skill.
Skill: genomic-variants
Source: https://github.com/inflexa-ai/inflexa/tree/main/skills/genomic-variants
Command: npx skills add https://github.com/inflexa-ai/inflexa --skill genomic-variants

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

This skill provides a standardized, reproducible framework for processing genomic data, ensuring that complex variant calling and association studies are performed with rigorous quality control and auditability.

Core Features & Use Cases

  • Variant Calling Pipeline: Orchestrates germline and somatic variant detection using industry-standard tools like GATK, DeepVariant, and Manta.
  • GWAS & Association: Facilitates population-scale association testing, PCA-based population structure adjustment, and relatedness filtering.
  • Annotation & Filtering: Integrates VEP and custom filtering logic to prioritize variants based on clinical significance and population frequency.

Quick Start

Use the genomic-variants skill to perform variant calling on the provided tumor and normal BAM files using the Mutect2 workflow.

Frequently Asked Questions about genomic-variants

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

FAQPage Schema
How do I run a somatic variant calling pipeline on tumor and normal BAM files?

Somatic variant calling on matched tumor and normal BAM files is executed using the Mutect2 workflow, orchestrating detection to identify tumor-specific genomic variants accurately.

What's the best way to perform GWAS with population structure adjustment?

Genome-wide association studies are supported with PCA-based population structure adjustment and relatedness filtering, ensuring population-scale association testing remains statistically rigorous.

Can I use GATK and PLINK2 for whole genome sequencing data processing?

Yes, whole genome and whole exome sequencing pipelines integrate standard genomic toolsets like GATK and PLINK2 to ensure reproducible and auditable bioinformatics results.

How does VEP annotation filter variants based on clinical significance?

VEP annotation integrates custom filtering logic to prioritize genomic variants based on clinical significance and population frequency, streamlining the identification of relevant mutations.

Does this genomic variant analysis support structural variant detection?

Structural variant detection is fully supported alongside germline and somatic calling, providing comprehensive genomic variant analysis for complex bioinformatics pipelines.

Why do I need DeepVariant and Manta for cohort-based genotype data processing?

DeepVariant and Manta orchestrate germline and somatic variant detection within cohort-based genotype data processing, ensuring rigorous quality control and reproducible scientific results.