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genomics-pro

Genome-scale analysis — variant calling, annotation, GWAS, and structural variation for research and clinical genomics.

skills/genomics-pro/SKILL.md

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## Overview

genomics-pro covers analysis at genome scale: whole-genome and whole-exome sequencing, variant
discovery and interpretation, population-scale association studies, and structural variation. Where
bioinformatics-pro handles the general NGS mechanics, this skill goes deep on genomic questions —
what variants exist, what they do, and how they associate with traits or disease.

It spans germline and somatic analysis, single-sample and cohort workflows, and the annotation
resources (ClinVar, gnomAD, COSMIC, dbSNP) that turn a VCF of millions of variants into a shortlist
worth investigating.

## When to use

- Designing a WGS/WES study: coverage targets (30x germline WGS, 100x+ tumor), capture kits,
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