From 4b9418f8c42fcc6907932c9d5db46c395a83cb5d Mon Sep 17 00:00:00 2001 From: Product Owner Date: Fri, 13 Mar 2026 22:03:18 +0100 Subject: [PATCH] docs: update README with MVP spec and architecture --- README.md | 117 +++++++++++++++++++++++++++++++++++++++++++++++++++++- 1 file changed, 115 insertions(+), 2 deletions(-) diff --git a/README.md b/README.md index b0d1a1b..c898199 100644 --- a/README.md +++ b/README.md @@ -1,3 +1,116 @@ -# mutascope +# 🧬 MutaScope -Mutation detection tool \ No newline at end of file +**Nanopore mutation detection platform** — upload FASTQ reads, get nonsynonymous variant reports. + +[![CI](https://git.nixlab.pl/hermes-team/mutascope/badges/main/pipeline.svg)](https://git.nixlab.pl/hermes-team/mutascope/pipelines) + +--- + +## What it does + +1. **Upload** nanopore FASTQ reads + select reference genome +2. **Pipeline** automatically filters, aligns, calls variants, and annotates +3. **Report** with interactive mutation table, heatmaps, and CSV/VCF export + +## Pipeline + +``` +FASTQ → NanoFilt → minimap2 → Clair3 → SnpEff → Report + (filter) (align) (call) (annotate) +``` + +**Tools:** +| Step | Tool | Purpose | +|------|------|---------| +| Quality filtering | NanoFilt | Remove low-quality reads (