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Improving Diagnosis for Patients with Rare Genetic Disease

Speakers from the event talk about improving their analysis and diagnosis

At this year’s ESHG event in Gothenburg, Sweden, Congenica hosted a satellite event on improving diagnosis for patients with rare genetic disease. Three speakers from leading institutions outlined how they have improved diagnostic yield and case throughput in their clinics, across three different medical specialties.

The audience heard first-hand how these Centres of Excellence are using world-leading clinical decision support software to empower genomic medicine and provide life-changing answers for patients.

Dr Tessa Homfray
Dr Tessa Homfray presents at ESHG

For those not able to make the event, we have provided below the presentations of each of the speakers. If you would like to find out more about how Congenica can help you enable genetic diagnosis in the clinic, you can request a demo of the software here.

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Clinical Utility of Prenatal Exome Sequencing: Achieving a high diagnostic yield with careful patient ascertainment 
Dr Tessa Homfray, Consultant, Medical Genetics
St George’s University Hospital
View presentation

Maximizing Diagnostic Yield: Application of a variant interpretation platform to a cohort of patients with epilepsy and learning disability
Robert Carton, Postdoctoral Research Fellow
Royal College of Surgeons Ireland (RCSI)
View presentation

The use of Sapientia for the analysis of cases from the 100,000 Genomes project in a clinical diagnostic setting
Sarah Mackenzie, Clinical Scientist
Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust
View presentation

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