HSMD 2.0 is now available


QIAGEN Digital Insights

HSMD 2.0 is now available

The latest version of the Human Somatic Mutation Database (HSMD) is now available. HSMD 2.0 includes over 140,000 new alterations, improved data visualization, and pipeline integration support.

We are pleased to announce the release of the latest version of the Human Somatic Mutation Database, a new somatic database developed by QIAGEN that contains extensive genomic content relevant to solid tumors and hematological malignancies. Expanding on the database’s current content and capabilities, HSMD 2.0 now contains data on structural variants, improved data visualization, and tools to enable seamless integration of the database into in-house workflows.


HSMD 2.0 release highlights

  • NEW structural variants: You can now explore data for 2423 fusions and 997 copy number variants (CNVs) reported in cancer. You’ll find literature references discussing rare fusions, and discover more about the functional, therapeutic, diagnostic and prognostic significance of structural variants in various cancer types.
  • HSMD’s dataset is now enriched with more than 63,000 clinically observed new variants, 350 new drugs and 580 new clinical trials.
  • Improvements have been made to the Observed Clinical Case Distribution (Gene page) and Gene Distribution (Disease page) graphs. They now provide a breakdown of functionally activating/inactivating and neutral mutations in a gene in a specific cancer type. The improved Alteration Distribution graph (Gene page) now includes genomic coordinates to zoom in to a particular genomic region and incorporates protein domain information to identify regions frequently affected by mutations. These enhancements to data visualization support drug development, companion diagnostic development, and informed decision-making during clinical trial design.
  • NEW HSMD Software Developer: Integrate HSMD into your in-house analytical tool for increased efficiency. You’ll be able to link out to the full HSMD online content via endpoints (API keys). HSMD Software Developer access provides integration keys for +1.5 million cancer-associated variants.

View the full list of new content updates here.


About HSMD

Combining over 2 decades of expert curation and data from real-world clinical oncology cases, HSMD is a new somatic database from QIAGEN that serves as a single, trusted data source for clinical labs to validate, assess, and better understand the clinical significance of detected variants.

HSMD aggregates manually curated content from the QIAGEN Knowledge Base, the industry’s largest collection of biological and clinical findings, with data from over 419,000 real-world clinical oncology cases that have been analyzed and interpreted by QIAGEN’s professional clinical interpretation service, to eliminate the need to manually collect inform-ation across knowledge bases and provide deep genomic insight into the molecular characterizations of your patient’s tumor.

Easy to search with new content added weekly, HSMD enables users to explore key genes or mutations with driving properties or clinical relevance, and lets users search for associated treatment options, off-label therapies, resistance markers, and regional and/or disease-specific clinical trials.

Learn more about HSMD here.



Live Panel: September 30

Experts in somatic NGS testing and clinical informatics discuss how to mitigate variability in somatic variant interpretation

As NGS is increasingly used in precision oncology, there is an industry-wide issue of standardization: a high degree of variability in variant interpretation currently exists across laboratories. On September 30, in a live panel discussion, experts in NGS testing and clinical informatics explore the issues surrounding  standardization and how to overcome them with real-world applications.

⇒ Learn more and register here.