Webinar highlights of 2021
During 2021 Congenica has delivered a range of informative and thought-provoking webinars from experts within Congenica and from our global customer base
Rare disease and diagnosis in 2021
Dr Charles Steward comments on a report that considers rare disease patients and explores opportunities for improved testing, diagnosis and treatment.
Best practices in automatable clinical decision support workflows
Embedding clinical best practices into an automatable clinical decision support workflow
Whole Genome Sequencing at Birth: What Should Be Looked For?
Dr Charles Steward speaks to the Progress Educational Trust about “Whole Genome Sequencing at Birth: What Should Be Looked For? What Should Be Fed Back?”.
Why choose a professional solution for your genomic data analysis?
Congenica survey illustrates the severity and impact of specific challenges in clinical genomics practice, especially genomic analysis and reporting.
Making the jump from GRCh37 to GRCh38
The general shift in usage to GRCh38 and the greater chance of detecting variants of interest are increasing the desire to move from GRCh37 to GRCh38.
Opening the Black Box: Telling the Story of a Genomic Diagnosis
Congenica opens the Black Box, following the journey of Karen Lettington and her son George as they are enrolled in the 100k Genomes Project
100k Genomes Pilot on Rare Disease Diagnosis in Healthcare
Co-author reviews the 100,000 Genomes Pilot on rare disease diagnosis in healthcare – Preliminary Report, published in New England Journal of Medicine
Nick Lench is appointed as Trustee of Epilepsy Research UK
Congenica Co-Founder and Chief Scientific Officer, Nick Lench, has been appointed to the Board of Trustees of Epilepsy Research UK (ERUK).
Automation and AI improve driving improvements in genomic testing
At ASHG 2021 Congenica demonstrated how automation and AI are two key platform features delivering improvements and results in genomic data analysis.
Let's talk cerebral palsy on Child Neurology Day
October 29 marks the first annual Child Neurology Day, launched to raise awareness of those affected by neurological disorders in children.
Lean on me - my big sister with Phelan-McDermid Syndrome
October 22nd is Phelan-McDermid Awareness Day and 7 year old Sophia shares a film about her big sister with this rare disease.