HSMD 4.0 · Real-world clinical data · Only from QIAGEN
HSMD (Human Somatic Mutation Database) is an expert-curated database of somatic variants developed by QIAGEN. It contains extensive genomic data relevant to both solid tumours and haematological malignancies. Version 4.0, released in 2025, brings up-to-date oncology content, new clinical trials, new drugs and enhanced ways of working with alterations, including overviews of their therapeutic, diagnostic and prognostic significance.
The HSMD database draws on two main sources. The first is the QIAGEN Knowledge Base, with more than 2.24 million variants, which contains information from peer-reviewed publications, clinical and functional studies, professional guidelines and commonly used databases such as gnomAD and ClinVar. It also includes information on drugs and their approved and off-label use. The second source is data from QIAGEN's interpretation service, formerly N-of-One, covering more than 870,000 real-world oncology cases and more than 583,800 somatic variants expertly assessed in a clinical context. Tens of thousands of new cases and clinically observed variants are added every year.
HSMD provides detailed annotation of single nucleotide variants, insertions and deletions, frameshifts, gene fusions and copy number variants. For each variant, it provides information on functional impact, clinical significance, associated diseases and occurrence across tumour types. The database covers 1,495 cancer-related genes in 1,365 tumour subtypes. HSMD 4.0, released in 2025, also added alteration distribution graphs and summary tables of therapeutic, diagnostic and prognostic significance.
Broad coverage of somatic variants in solid tumours and haematological malignancies. The data come from peer-reviewed publications, NCCN, AMP/ASCO/CAP and WHO guidelines, and the gnomAD and ClinVar databases.
The real-world clinical data come from the QCI Precision Insights service, formerly N-of-One. These data set HSMD apart from purely catalogue-type mutation databases and provide information on variants actually observed in practice.
A subset of clinically observed variants with available information on disease course, treatment response, functional impact, disease association and clinical actionability.
Search by genes, alterations, diseases, drugs and clinical trials. Version 4.0 also adds alteration distribution graphs and tables summarising their therapeutic, diagnostic and prognostic significance.
QIAGEN has been performing expert variant assessment for more than 20 years. For each gene, clinical actionability tiers across tumour types are assessed according to AMP/ASCO/CAP guidelines.
At least 70,000 new clinical cases and approximately 60,000 newly clinically observed variants are added every year, so the database keeps growing with data from clinical practice.
Interpretation of somatic variants with a focus on clinical actionability, including targeted therapy options, prognostic significance and resistance mutations.
Fast, evidence-based decision-making. Data from real-world clinical cases can support treatment selection in complex cases.
HSMD helps interpret somatic variants detected in plasma and distinguish clinically significant findings from variants associated with, for example, clonal haematopoiesis (CHIP).
Use of real-world clinical data to identify new target patient groups, biomarkers and mechanisms of action or resistance.
HSMD can serve as a reference source for assessing biomarker prevalence and estimating its association with treatment response.
Support for drug development strategies, therapeutic target identification and broader biomarker analysis.
An annual licence for ten users, support included. For a pilot project, we can offer trial access.