Full Speed Ahead for FAM177A1: Two Siblings' Diagnostic Odyssey
Jill Hawkins is founder and president of Fam177A1. an organization she set up following the diagnosis that two of her children have large deletions on their FAM177A1 gene. Here she tells her story.
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.
A Ray of Sunshine
Guest blogger Alexandra Gaudlap is mother to three children including Raymond, who at a young age was diagnosed with a mutation in gene VAMP2.
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
Congenica named as genomic analysis platform in ‘Impact of the 100,000 Genomes Pilot – Preliminary Report’ in the New England Journal of Medicine
Congenica named in Impact of the 100k Genomes Pilot on rare disease diagnosis in healthcare publication in the New England Journal of Medicine
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
Congenica’s commitment to quality - World Quality Week 2021
In Quality Week Congenica recognises its leading commitment to quality and standards