Congenica enhances the detection of inherited platelet disorders

Link to Full Article A recent study from the University of Birmingham has shown that the Congenica platform demonstrated superior performance in identifying the genetic causes of platelet-related bleeding disorders [1]. Whole Exome Sequencing in combination with deep platelet phenotyping has been used in an earlier study (Genotyping and Phenotyping of Platelets, UK-GAPP) to identify pathogenic genetic […]

Congenica Launches New Host Genetics Module to Advance COVID-19 Research

Link to Full Article Cambridge, United Kingdom – 22 September 2020 – Congenica has launched a new module for its genomic analysis platform that will accelerate research into the relationship between an individual’s genomic variation and COVID-19 susceptibility, severity, and clinical outcomes. Since the beginning of the COVID-19 global pandemic outbreak, the global research community has united in an unprecedented effort […]

Congenica Automation Further Accelerates Identification of Genetic Diseases

Link to Full Article   Cambridge, United Kingdom – 15 July 2020 – Congenica has launched Congenica Automation, an update for its clinical decision support platform that will provide automated classification, evidence and reporting of recurrent ‘known’ variants that customers observe in their rare disease cases, significantly saving time while maximizing diagnostic yield and laboratory throughput. The key […]

Congenica launches new application to enable faster analysis of epilepsy and neurodevelopmental disorders

Link to Full Article Cambridge, United Kingdom – 14th January, 2020 – Congenica, a digital health company enabling rapid analysis of complex genomic data to improve disease characterization and diagnosis, today announced the launch of Congenica Neuro™, a new application on its clinical decision support platform that facilitates faster, more accurate and comprehensive characterization and diagnosis of epilepsy and […]

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Link to Full Article Cambridge, United Kingdom – 3rd December, 2019 – Congenica Ltd, a digital health company enabling rapid analysis of complex genomic data to improve disease characterization and diagnosis, has announced the publication of a new study on the re-annotation of developmental and epileptic encephalopathy-associated genes with significant clinical implications. Developmental and epileptic encephalopathies are a group of rare, […]

A fast and reliable method to reach a conclusive diagnosis of MYH9-related disorder

Link to Full Article Congenica platform provides variant review and assessment to support conclusive diagnoses for patients with complex and commonly misdiagnosed bleeding disorders in a large multicenter genomic study. MYH9-related disorder (MYH9-RD) is a complex condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney disease, and cataracts. The complexity […]