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Updated: Nov 16, 2025
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Comparison of Open-access Databases for Clinical Variant Interpretation in Cancer: A Case Study of MDS/AML
Henrik Banck1, Martin Dugas1, Carsten MÜller-Tidow2
1Institute of Medical Informatics, University of Münster, Münster, Germany.
Background:
Recently, guidelines for variant interpretation in cancer have been established. However, these guidelines do not mention which databases are most suited to performing this task.
Materials And Methods:
We give an overview of existing databases and evaluate their benefit in practical application. We compared three meta-databases and 12 databases for a dataset of patients with myelodysplastic syndrome or acute myeloid leukemia.
Results:
Clinical implications were found for 13% of all variants. One-third of variants with therapeutic implications were uniquely contained in one database. The VICC meta-database was the most extensive source of information, featuring 92% of variants with a drug association. However, a comparison of meta-databases and original sources indicated that some variants are missing in those meta-databases.
Conclusion:
Public databases provide decision support for interpreting variants but there is still need for manual curation. Meta-databases facilitate the use of multiple resources but should be interpreted with caution.
