Project Description

Euformatics is a Finnish biomedical software company that specializes in bioinformatics tools for  genome data quality management and variant interpretation.

They’re aim is to help medical doctors and molecular genetics laboratories in providing better precision medicine for cancer, common or rare disease diagnostics, through training and easy adoption of NGS technologies. Their 3 main focus products are:-

OmnomicsV for NGS test validation

OmnomicsQ for internal quality control of NGS bioinformatics workflow

OmnomicsNGS for variant annotation, interpretation

The CE-marked omnomicsNGS variant interpretation and reporting platform provides both independent clinicians and molecular genetics laboratories with all relevant genomic and variant information based on patient data, growing local knowledge, and external data sources.

Other features include:-

  • Quick generation of gene panel reports according CAP/ACMG/ASCO guidelines
  • Digs deep for rare genetic disorders in whole exomes or genomes
  • Can use on the cloud or on local servers
  • Can be integrated into larger IT infrastructures for clinical oncology or other genetic testing
  • Enables collaboration and exchange of data at different scales; for clinical research projects or together with a biobank as a repository for genomic variants