Introduction
SeqUIaSCOPE is an open-source web application designed for routine clinical oncology diagnostics through patient-centric integration and visualization of annotated genomic variants, fusion events, and expression profiles. It includes embedded genome browsing, pathway-level interpretation, and customizable reporting. The patient-centric design supports single-patient diagnosis while allowing multi-patient data management. SeqUIaSCOPE is designed for secure local or cluster-based deployment using Docker or Kubernetes, ensuring that all patient data remains within institutional infrastructure.
Live demo
We are hosting a live demo of SeqUIaSCOPE to showcase its capabilities and allow users to explore the platform in action. Access the demo at: Live Demo
Important Notes:
- Demo data are anonymized and does not represent real clinical cases
- Some features may have limited functionality due to data sensitivity requirements
- Genome browsing is available only for the fusion gene dataset, limited to one specific fusion (KMT2A::MLLT3) and the immediate vicinity of its breakpoints
- While the demo runs the full version of SeqUIaScope, uploading your own data is not supported
- For production use with your own data, deploy SeqUIaSCOPE locally using Docker or on cluster using Helm chart
How to load demo data:
- Select demo_data folder as a directory with patient data
- Add patient name as DZ1601
- Select all datasets (Somatic variant calling, Germline variant calling, Fusion gene detection and Expression profile).
- Leave patterns for somatic and germline variants empty.
- Fill fusion detection pattern for tumor BAM file as fusion and for chimeric BAM file as chimeric. Genome for IGV snapshot should be set to GRCh38/hg38
- Fill reference tissues for expression profile as spleen, testis