Bioinformatics Analysis Tools

By focussing on the most efficient solutions and on national coordination and quality assurance, GMS provides a solid basis for managing the increasing amount of sequencing data generated in healthcare.

National Tools for Efficient Genetic Data Management

National bioinformatics analysis pipelines are essential for handling the rapidly increasing amount of genetic data generated by sequencing. Coordinating analysis and storage ensures consistency and efficiency, leading to higher quality, fewer errors, and faster diagnostic processes. This enables equal access to advanced diagnostics across the country and reduces costs through shared resources and common systems. At the same time, it creates a platform for groundbreaking research and innovation in areas such as rare diseases, cancer, and microbiology. Information security is strengthened through national guidelines that protect patient data and ensure compliance with legal requirements. Through continuous improvement and development, these tools establish a robust, efficient, and innovative infrastructure for bioinformatics analyses within Swedish healthcare and research.

Development of Analysis Pipelines

Within GMS, national bioinformatics analysis pipelines are developed across all disease areas. These pipelines are under constant development and are made available with open source code, allowing others to use and further develop them. We also welcome contributions in the form of code enhancements.

Examples of Bioinformatics Analysis Tools

Rare Diseases

  • nf-core/raredisease: DNA analysis using gene panels, exome, or whole genome sequencing
  • Tomte: RNA data analysis
  • Nallo: Long-read sequencing analysis

Cancer

Microbiology