Whole Genome Sequencing at scale: experiences from a national genome sequencing project
Whole Genome Sequencing at scale: experiences from a national genome sequencing project
The Power of a Genetic Diagnosis
This video tells the story of a little boy, his diagnostic odyssey and the power of a genetic diagnosis for him and his family.
RARE Bears bring community together on Rare Disease Day
RARE Bears bring community together on Rare Disease Day
How rapid genomic analysis can improve epilepsy diagnosis and treatment
How rapid genomic analysis can improve epilepsy diagnosis and treatment
Congenica launches new application to enable faster analysis of epilepsy and neurodevelopmental disorders
Congenica today announced the launch of Congenica Neuro, a new application to enable faster analysis of epilepsy and neurodevelopmental disorders.
Re-annotation of Developmental and Epileptic Encephalopathy-associated genes unmasks de novo variants
We re-interpreted 191 epilepsy-associated genes using human brain-derived transcriptomic libraries and other data to identify many new exons that were previously missing from the public datasets.
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A
Congenica announced the publication of a study on the re-annotation of developmental & epileptic encephalopathy-associated genes with significant clinical implications.
Maximizing NGS lab efficiency in the analysis and interpretation of genomic data
Maximizing NGS lab efficiency in the interpretation of genomic data is essential to deliver fast turnarounds of results and value to patients at scale.
A fast and reliable method to reach a conclusive diagnosis of MYH9-related disorder
Congenica platform provides variant review and assessment to support conclusive diagnoses for patients with complex and commonly misdiagnosed bleeding disorders.
Congenica Appoints Dr. Heiner Dreismann as Non-Executive Director
Congenica Ltd, has announced the appointment of Dr Heiner Dreismann as non-executive Director and Senior Independent Director on the board.
Congenica named MedTech Company of the Year 2019
Congenica has been named MedTech Company of the Year 2019 at the Cambridge Independent Science and Technology Awards 2019 at a ceremony held in Cambridge.