MGDB：臨床次世代シーケンシングのための新しいバイオインフォマティクス品質管理ツール

Next-generation sequencing (NGS) is transforming clinical diagnostics by enabling the detection of genetic variation with unprecedented precision. However, successful implementation of NGS workflows necessitates stringent quality control. This study introduces Molecular Genetics Dashboard (MGDB), a novel bioinformatics tool designed to enhance quality control in clinical NGS workflows.

Using the Python dash framework for visualizations and MySQL databases, we have developed a novel tool for variant-level monitoring of clinical NGS sequencing runs. MGDB uses a docker-compose containerization for improved portability and can flexibly include or exclude samples from accumulated statistics with notes from interpreters.

MGDB facilitates variant-level run-to-run monitoring, ensuring the consistency of variant detection across sequencing cycles. The tool provides an interactive platform for visualizing and assessing variant data, identifying potential inconsistencies or outliers and improving data management and interpretation compared to traditional methods. MGDB was tested using samples sequenced with Oncomine Focus/Comprehensive Plus assays on S5 sequencers and analyzed via IonReporter software.

MGDB offers a robust and user-friendly solution for enhancing quality control in clinical NGS workflows, contributing to greater accuracy and reliability in variant detection. The tool is freely available on GitHub: https://github.com/acri-nb/GeneticVariantsDB.