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Latest News and Blogs

Congenica named in UK’s Digital Health Playbook - ‘First 100’ Companies

Congenica named in UK’s Digital Health Playbook - ‘First 100’ Companies

Congenica has been featured in the UK’s Digital Health Playbook ‘First 100’ as one of the UK’s most innovative and impactful digital health companies.   

Genome UK implementation plan

Genome UK implementation plan

Congenica response to Genome UK implementation plan

Dr Charles Steward joins as “friend” of the UK Infantile Spasms Trust

Dr Charles Steward joins as “friend” of the UK Infantile Spasms Trust

Congenica's Dr Charles Steward joins the “friends” of the UK infantile Spasms Trust as an advocate and advisor

Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS)

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

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 - 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

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 

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

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

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. 

Congenica assures the clinical safety of NHS genomic analysis

Congenica assures the clinical safety of NHS genomic analysis

Congenica clinical decision support and NGS data analysis provides a complete Clinical Risk Management Process in compliance with the DCB0129 standard

Redressing the balance: Ring Chromosome 20 Syndrome

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.