ESHG 2020 Satellite: Next generation analysis – enabling rapid life-changing answers
Saturday 6th June, 13:00 – 14:30 (CEST)
There is increasing pressure on clinicians and scientists to perform efficient and high-quality analyses of NGS data. Increasing throughput and diagnostic yield is of paramount importance to ensure this increasing need is met, and ensuring the highest standard of care for patients.
In this ESHG 2020 satellite, experts from world-leading institutions will discuss methods and best practices to enhance diagnostic yield and maximize efficiency, with real-world case examples.
Phenotype-based prioritisation of variants with Exomiser
Damian Smedley, Reader in Computational Genomics Queen Mary University of London
Validation and application of the Exome-CG WES platform for clinically relevant CNV
Dominic McMullan, Head Genomics Programme Birmingham Women’s and Children’s NHS Foundation Trust
Influencing prenatal clinical management using exome sequencing
Dr Esther Dempsey, BSc, MBBS, MSc, MRCPCH(2014), British Heart Foundation Clinical Research Fellow and Honorary Specialist Registrar in Clinical Genetics St George’s University of London
Register Your Interest for the Event