The Importance of Deep Phenotyping in Precision Medicine

In the third installment of PhenoTips Speaker Series, precision medicine thought leader and founder of the groundbreaking Human Phenotype Ontology, Dr. Peter Robinson, presents insights on the importance of deep phenotyping for genomic analysis in precision medicine.


The emerging precision medicine movement promises to enhance care across all areas of medicine by mapping detailed genetic information to diagnoses. With many thousands of human diseases, phenotypic analysis is an invaluable tool for reaching diagnosis, but this analysis is restricted without computational data structures for phenotypes. To prepare for the growing precision medicine movement, PhenoTips has invited Dr. Peter Robinson, the founder of the Human Phenotype Ontology, to offer insights on the invaluable role deep phenotyping will play in mainstream genomic analysis.

With a masters in mathematics and computer science from Columbia University, and a doctorate of medicine from the University of Pennsylvania, Dr. Peter Robinson developed the Human Phenotype Ontology with his group while training as a pediatrician at Charité University Hospital in Berlin, Germany. The Human Phenotype Ontology (HPO) is an international standardized vocabulary that facilitates deep phenotyping with over 13,000 terms for phenotypes, mapped to over 136,000 genes and diagnoses. It is used by the Sanger Institute, NIH-funded groups including the Undiagnosed Diseases Program, the rare diseases section of the UK’s 100,0000 Genomes Project, and many others. In addition, Dr. Peter Robinson has identified novel disease genes, published hundreds of articles in prestigious journals such as Nature Genetics, Cell, and the New England Journal of Medicine, and has received over 19,000 citations for his work. Dr. Peter Robinson is a Professor in Genomics and Computational Biology at the Jackson Laboratory in Farmington, Connecticut, the Director of the Human Phenotype Ontology Consortium, and Co-program director of the Monarch Initiative.

In this webinar presentation hosted by PhenoTips COO Dr. Pawel Buczkowicz, Dr. Peter Robinson covers:

  • An introduction to ontologies
  • Representation of biomedical data with ontologies
  • Ontologies and the importance of interoperability
  • Deep phenotyping with a phenotype ontology
  • The benefits of deep phenotyping for Variants of Unknown Significance
  • Evaluations and comparisons of HPO utilizing, variant prioritization software, including:
    • Exomiser
  • Phenopackets: recent innovations for standards in precision medicine

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