- Update adds Copy Number Variant (CNV) calling to detect genetic variation with greater resolution and sensitivity
- Software renamed to become synonymous with the company name
- Renaming is part of wider rebrand and website relaunch
Genomic medicine, the use of genetic data to diagnose and characterise disease, is a new but rapidly expanding area. It has the potential to not only help patients receive a diagnosis but also to inform which treatment would be most effective and which lifestyle choices will help maintain wellness. Congenica’s software helps clinical scientists and physicians rapidly analyse and interpret a patient’s genomic data to make robust and personalised diagnoses.
CNVs are deletions or duplications of a specific region of DNA which are known to cause a range of conditions, including intellectual disability and other neurodevelopmental disorders. The combination of panel or exome sequencing with a powerful algorithm will deliver the sensitivity and specificity to detect rare CNVs from sequence data, streamlining the current lab-based approach to CNV detection and reducing time to diagnosis.
As part of the latest release of Congenica, a complete CNV module has been delivered, enabling calling and analysis of CNVs, single-nucleotide variants (SNVs) and Indels in one place, through a simple to implement and streamlined workflow.
Dr David Atkins, CEO of Congenica, said: “Empowering healthcare professionals to make important clinical decisions that transform the lives of patients is at the heart of everything we do at Congenica. That’s why we’ve changed the trade name of our software platform to make it synonymous with our company name and values.
“We collect a wealth of health information, amounting to trillions of data points, then interpret and understand every detail. Already, a diagnosis that could have taken years, can now happen in a matter of hours, providing patients with quick and accurate answers to previously unanswerable questions. Ultimately, we want to enable disease prediction and empower people to maintain wellness and lead fuller lives.”
Today’s news coincides with the launch of a new company website and logo, which better reflects Congenica’s commitment to enabling genomic medicine and delivering life-changing answers for patients.