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.
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.
How rapid genomic analysis can improve epilepsy diagnosis and treatment
How rapid genomic analysis can improve epilepsy diagnosis and treatment
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.
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.
How to select a clinical decision support platform
How is genomic clinical decision support being used to address the challenges in medicine? How it is helping clinicians realize the potential of genomics?
Poster: Towards Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS) using cell-free DNA
Invasive fetal sampling is currently the only way to comprehensively test genomic material for single gene disorders, for example using exome sequencing.
Poster: Diagnosis of fetal structural abnormalities using whole exome sequencing: a single centre study
Fetal anomalies are identified in ~2-5% of pregnancies and are responsible for ~20% of perinatal deaths.
Neurodevelopmental disorders - discovering the underlying cause and how genomic data analysis ended a 21-year diagnostic odyssey
Thousands of babies are born each year with a neurodevelopmental disorder and the global estimate for individuals with intellectual disability is 10.37/1,000 (1) and 62/10,000 (2) for autism.
Enabling genomic medicine
Our brand identity reflects the unique work we do and our commitment to empowering healthcare professionals to make important clinical decisions.
Should you get your genome sequenced?
If you could afford it, would you get your genome sequenced? We live in exciting times, it will not be long before we are all comparing our genome data.