RefLab Database® provides a comprehensive overview of the clinical validity and causality of detected genetic variants with associated symptoms. In addition, it is a valuable tool for identifying new genes involved in pathogenic processes by correlating new genetic variants with specific and well-defined phenotypes.
The RefLab Database® software correlates the clinical information of our patients, described using HPO terminology, with the detailed annotation of millions of genetic variants, validated by our experts.
RefLab Database® is in con nuous growth with: