Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS)
At the Curating the Clinical Genome event in May 2021, Suzanne Drury, Lead Transitional Scientist, Prenatal Genomics and Personalized Health at Congenica presented a poster that detailed ...
Our CHAMP1 journey
A father's story of having a son with a disease so rare that he is only one of 38 kids in the world to be diagnosed with Champ1, and what it means.
Congenica 3.1 - Automating best practices in variant interpretation
Congenica 3.1 release forms part of our ongoing commitment to embedding variant analysis best practices in an automated platform and intuitive workflow.
Dr Charles Steward elected to the ICPGC GC
Congenica’s Patient Advocacy and Engagement lead, Dr Charles Steward, has joined the International Cerebral Palsy Genome Consortium Governance Council.
SCN8A – the needle in the haystack
As part of our Patient Advocacy and Engagement program, we welcome guest blogger Ben Clay, whose daughter Tilly was diagnosed with SCN8A when she was 8.
Exome analysis of cases with skeletal dysplasia
Andrea Haworth at Congenica presented a poster at Rady’s Frontiers in Pediatric Genomic Medicine event that looked at cases of skeletal dysplasia.
Automated variant classification workflows in a rare disease laboratory
Helen Savage presented a poster at Rady’s Frontiers in Pediatric Genomic Medicine highlighting the case for automating standardised analysis of cases.
Redressing the balance: Ring Chromosome 20 Syndrome
Congenica welcomes Allison Watson to talk about her experiences of Ring Chromosome 20 (R(20) - an ultra-rare epilepsy syndrome.
Seeding a Life-Changing International Genomic Insight Alliance to Treat Pediatric Epilepsy
A webinar with experts from Sanford Health and Congenica discussing the applications of genomics to the research and treatment of pediatric epilepsy.
Institute of Immunology and Genetics in Kaiserslautern selects Congenica to accelerate its whole exome sequencing
Congenica announces a new contract with the Institute of Immunology and Genetics, a leading molecular genetic laboratory in Kaiserslautern, Germany
Why my five-year-old daughter is my inspiration as we fight to understand her sister’s epilepsy
March 26 is #Purpleday, an international awareness day that aims to get people talking about epilepsy and raise awareness of the condition. Congenica welcomes guest blogger Adam Clatworthy to tell ...