Thalassemia Sanger Sequencing Mutation Checker

A practical web tool for primer-specific review of Sanger sequencing .ab1 files used in thalassemia mutation screening workflows.

What This Project Is

This repository provides a full-stack prototype that helps users:

• Upload .ab1 Sanger sequencing files
• Select target primer groups
• Run deterministic mutation and QC checks
• Review results in a browser
• Export a structured JSON report

Who It Is For

• Research labs and academic workflows
• Bioinformatics support teams
• Internal validation and training use cases

Important Disclaimer

This tool is for educational and research workflow support only. It must not be used as a standalone clinical diagnostic tool. Any clinical interpretation should be reviewed and validated by qualified professionals using approved laboratory procedures.

Project Layout

• thalassemia-seq-web/ - deployable full-stack application
  • frontend/ - Next.js web interface
  • backend/ - Python FastAPI + ABI/QC/mutation logic
• notebooks/ - original exploratory Jupyter notebooks
• Dataset and py/ - legacy scripts and sample/archived assets

Quick Start

See the implementation guide in:

• thalassemia-seq-web/README.md