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Showing posts from May, 2015

Why the Human Phenotype Ontology?

We've often been asked, why should we use the Human Phenotype Ontology to describe patient phenotypes, rather than a more widely-used clinical vocabulary such as ICD or SNOMED? Here are the answers to some of these frequently asked questions:

1. We should use what other big NIH projects, like ClinVar, are using.

ClinVar is using HPO terms to describe phenotypes. This is done in collaboration with MedGen, which has imported HPO terms. Here is an example:

There are now many bioinformatics tools that use the HPO to empower exome diagnostics. The Monarch team has published two of these recently

1) Exomiser (Robinson et al., 2014 Genome Res.) => For discovering new disease genes via model organism data, several successful use cases at UDP and elsewhere

2) PhenIX (Zemojtel et al., 2014 Science Translational Medicine) => For clinical diagnostics of “difficult” cases. This paper was on Russ Altman's year in review at AMIA this year.

Also, a num…