Case Studies

Partner case study

Delivering results on a national scale

Genomics England has been successful in delivering the groundbreaking 100,000 Genomes Project and establishing the world’s first national health service to offer whole genome sequencing, the UK NHS Genomic Medicine Service.

Congenica software has enabled Genomics England to achieve a 50% increase in diagnostic yield for patients and a 95% reduction in NGS data interpretation times at an unprecedented scale of over 2,700 whole genomes per week.

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Partner case study

Automating exome data analysis and interpretation

Congenica software has enabled Veritas Intercontinental to quickly scale up from panel analysis to whole exome analysis without requiring additional resources or infrastructure. By automating many aspects of its workflow, Veritas has been able to increase case throughput and lab capacity, while also improving diagnostic yield.

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Clinical case study

Artificial Intelligence (AI) enabled diagnosis

For patients with epilepsy, an early genetic diagnosis can often identify treatment options to stop the seizures and prevent brain damage, but identifying the causal variant can be challenging.

In the recent case of a 1-1/2 year old, Congenica AI’s variant pathogenicity prediction and prioritization capability led to identification of a previously overlooked causal variant, providing a diagnosis for the patient and his family.

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Enabling meaningful interactions

With Congenica, multidisciplinary teams and specialists from around the world can work together, benefiting from the latest information and understanding. The software helps you improve the accuracy of your analysis that may enable more meaningful dialogue in clinical practice.

Analyze and interpret genomic data rapidly, reliably and with complete confidence