Influencing Prenatal Management Using Exome Sequencing
Looking at the impact of cases receiving molecular diagnosis, it is evident that exome sequencing has significant management implications
How to reduce NGS interpretation times by as much as 95%
How laboratories are reducing the interpretation bottleneck by 95% so that laboratories and national programs can solve more cases.
Congenica v2.5: Automate Your Workflows
In this release, we made a significant step on our journey to intelligently, safely, and confidently Automate Variant Classification and reporting.
The evolution of a prenatal genetic clinic – a ten-year cohort study
A ten-year cohort collaborative study was recently published, examining trends in fetal genetic testing and the use of new molecular genetic technologies.
The genetics of Covid-19: what we know so far
What have we learnt in the months since the COVID-19 outbreak was reported? Are there specific genetic factors that influence susceptibility to infection?
Precision Medicine at the cross-roads
40 leaders from the public and private sectors concluded that precision medicine's key barriers exist in policy and governance, not science and technology.
Putting Genomes at the Heart of Patient Care
Sequencing and analysis of whole genomes in the 100,000 Genome Project led to the genetic diagnosis for 60% of patients with rare diseases.
From data to diagnosis – delivering nation-wide results with Genomics England
Following a rigorous evaluation, Congenica was selected as the exclusive clinical decision support provider for the UK Genomic Medicine Service.
Providing rapid genomic answers in urgent prenatal settings
In this post, Suzanne Drury, PhD; Clinical Genomics and Personalized Medicine Specialist reviews prenatal diagnosis in the era of genomic medicine.
Lightning Talk: using exome sequencing to identify fetal anomalies
This lightning talk highlights the background and findings from a recent study on the diagnosis of fetal structural abnormalities using exome sequencing.
Diagnosis Of Fetal Structural Abnormalities Using Exome Sequencing
Louisa Ive presents work on the use of exome sequencing in the diagnosis of fetal structural anomalies, highlighting its importance in a prenatal setting.
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.