Detailed information on millions of gene variants validated by our experts
Disease related variants
Performing the correct clinical interpretation of a genetic variant can be a long and complex procedure. Misinterpretation or delayed diagnosis can have negative consequences on the quality of life of the patient and their relatives.
In order to facilitate the correct interpretation of genetic variants and to bring our extensive experience in clinical diagnosis closer to the scientific-medical community, we have developed RefLab Database®, our database of rare disease genotypes and phenotypes.
RefLab Database® correlates the clinical information of our patients, described using HPO terminology, with the detailed annotation of millions of genetic variants.
Our database allows:
How does RefLab Database® work?
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:
We integrate and interpret sequencing data from a clinical perspective, thanks to the use of HPO terms and the fact that we have more than 40 years of experience in clinical interpretation.