New study indicates whole exome sequencing is appropriate for diagnostic testing in both adult and paediatric epilepsy patients
A new collaborative publication explores the utility of genomic diagnostics in a cohort of 101 adult and paediatric epilepsy patients.
Faster Genomic Analysis of Neurodevelopmental Disorders with Congenica
Congenica enables you to achieve 10X faster processing speeds, instantly access genetic evidence and minimize the risk of variants going undetected.
Medical Genetics Awareness Week: exploring the past present and future of medical genetics
In celebration of Medical Genetics Awareness Week we interviewed Dr Charles Steward to find out what excites him most about the future of medical genetics.
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.