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.
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.
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.
