Mayo Clinic uses HPO to help diagnose new diseases
The Mayo Clinic is one of the growing number of clinics and research labs using the Monarch Initiative’s Human Phenotype Ontology (HPO) to help identify previously unknown genetic diseases and diagnose the people who have them. HPO, the most widely used ontology of medically relevant phenotypes, now includes over 18,000 phenotypic abnormalities (see https://hpo.jax.org/about).
As reported in their October 28 article, HPO plays an important role in the Mayo Clinic’s efforts to diagnose rare disease patients faster so they can be appropriately treated.
Eric Klee, Ph.D., a clinical genomics researcher at Mayo Clinic, noted that HPO “allows you to structure a patient’s phenotypes in a way that shows the relationships between them,” and adds that HPO could be used to help clinicians to interpret the results of genomic sequencing as well as to determine which patients might benefit from having their genomes sequenced.
Read the Mayo Clinic article here: https://newsnetwork.mayoclinic.org/discussion/cracking-the-code-how-the-human-phenotype-ontology-advances-genetic-discovery/
October 28, 2024
