The Role of Phenotyping in Improving Diagnostic Outcomes

In the tenth installment of PhenoTips Speaker Series, Dr. Damian Smedley, the Director of Genomic Interpretation for Genomics England, presents the role phenotype-aware analysis plays in improving diagnostic outcomes for individuals with rare conditions.


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. To bring awareness to the diagnostic potential of phenotype-based approaches to genomic analysis, PhenoTips invited Dr. Damian Smedley to present his experience developing phenotype-aware approaches to diagnosing rare conditions.

Dr. Damian Smedley is a Senior Lecturer at the William Harvey Research Institute (WHRI), Queen Mary University of London, where his research team continues to develop the popular Exomiser package for phenotype-aware analysis of rare disease genomes. In addition, as the Director of Genomic Interpretation for Genomics England, he delivers clinical analysis of rare disease and cancer samples in the 100,000 Genomes Project. Dr. Smedley holds a BSc and PhD in Biochemistry, and a MSc in Bioinformatics, with experience at the European Bioinformatics Institute contributing to the BioMart software system, and founding and leading the mouse informatics team. Before joining the WHRI, Dr. Smedley spent three years as a senior manager of the Sanger Institute.

In this presentation hosted by PhenoTips COO and VP of Scientific and Medical Affairs, Dr. Damian Smedley will draw from his experience to provide insights on:

  • 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

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