Join us live on June 22nd 4 to 5pm GMT, 12 to 1pm EDT, for the tenth installment of PhenoTips’ Speaker Series, “The Role of Phenotyping in Improving Diagnostic Outcomes”.
The Role of Phenotyping in Improving Diagnostic Outcomes is a presentation and interactive Q & A with Dr. Damian Smedley, a University of London researcher developing the popular Exomiser package for phenotype-aware analysis of rare disease genomes, hosted by PhenoTips' COO and VP of Scientific and Medical affairs Pawel Buczkowicz.
Whole genome and exome sequencing have had a tremendous impact on rare disease diagnosis and gene identification. While hundreds of novel disease-associated genes have been characterized thanks to this technology in the past five years, the identification of disease-causing mutations is often challenging due to the large number of rare variants that continue to be revealed.
In this presentation, the Director of Genomic Interpretation for Genomics England, Dr. Damian Smedley, will address:
• Leveraging Human Phenotype Ontology (HPO) in annotating, filtering, and prioritizing likely causative variants.
• The impact of phenotype-based approaches to rare disease on diagnostic outcomes
• 45 minute presentation
• 15 minute audience Q & A
Register for free