Bioinformatics
Bioinformatics Services
We bring together next-generation sequencing and microarray technologies with integrated solutions covering the entire process, from sample acquisition to bioinformatics analysis.
Our expert bioinformatics team provides tailored solutions to clinicians and researchers working in the life sciences and molecular diagnostics fields, ensuring that data is processed quickly, accurately, and in a clinically meaningful manner.
Thanks to GenerAVI, our proprietary automated variant interpretation platform, we facilitate decision-making processes by presenting variants associated with phenotypes or diseases in a clear and clinically reportable format.
Clinical Bioinformatics Analysis
Compatible with Windows, Linux and Mac OSX
Expert Variant Database
Variant querying using bioinformatics tools such as ClinVar Expert Panel, SIMBA, ENIGMA, and PharmGKB.
In-house Database
Calculation of the variant's population frequency using the database created from previous analysis results.
Clinical Classification
GenerAVI automatically classifies each variant based on its pathogenicity, using 12 ACMG criteria as a basis.
Variant Filtering
Variant filtering system based on criteria such as clinical significance, pathogenicity, and population frequencies
Analysis Summary
Summary including clinically meaningful variants consistent with the phenotype, along with benign variants, VUS and secondary findings.
Platforms
What are we offering?
- Guideline-compliant integrated analysis
- Data confidentiality and security
- More than 50 integrated databases
- Up-to-date scientific knowledge
- Rapid results