HPO terms in a collection

The HPO terms for a cohort of patients can be interrogated if they are part of a collection. As an example, the Undiagnosed Diseases Network (UDN) has thousands of samples with defined HPO terms. The HPO information can be access from the HPO menu item in any collection.

Find samples that share HPO terms

For a collection, the HPO page will show all HPO terms associated with all samples in the collection. Below, we have searched on a specific sample name which returns a list of all that sample's HPO terms as well as all samples that share each of these terms.

Most common terms in the collection

In order to find the most common HPO terms in the project, simply click the Samples title in table to sort the table based on the number of samples that share individual terms. One click will sort in ascending order with the least common terms first, which will identify HPO terms that only appear once across the cohort. Clicking a second time, will sort in descending order, so the terms that appear the most times will appear at the top. Here we can see that Global developmental delay is the most common term, having been assigned to hundreds of samples.

Find samples with the most HPO terms

By clicking the Group By button at the top of the HPO table and selecting Sample, the table will change to display the HPO terms associated with each individual sample. We can use the HPO Terms column title to sort the table based on the number of terms a sample has. Again, one click sorts in ascending order, so we can find the samples with the least number of associated terms. Clicking again will bring the samples with the most terms to the top of the table. We can quickly discover that the samples in the UDN collection (at the time of writing) range from a single HPO term to one sample with 127 HPO terms.

Related tutorials

• Learn how to add and export HPO terms here