sticky our HPO initiative - summary and update

Pazmandi Julia

Dear All,

We would like to thank you all for your participation in the HPO initiative so far. This email aims to summarize what has happened and what we have achieved until now – as well as shed light on future directions.

Summary - the kick-off meeting

During our kick-off meeting in Vienna we have successfully re-annotated 18 diseases with HPO terms. Subsequently, we have reviewed and revised four branches of the HPO tree:  neutrophils, lymphocyte count structure, humoral immunity hierarchy, immune system physiology.  All these changes have been officially submitted to the HPO git page. Two of the changes (regarding immune system physiology, humoral immunity hierarchy) have been successfully implemented, the other two are in the final stages of acceptance.

From October until now

After our kick of meeting the focus has shifted to complete two tasks within the first 4 months of operation.

Firstly, to collect publications detailing phenotypes for specific diseases, to use as knowledge base in the semi-automated disease re-annotation lead by Peter Robinson. Two groups have completed the collection of publications so far. Peter, Matthias and I are currently working on starting the annotation process.

Secondly, we aimed to address the precision of the diseases ontologies towards immune mediated disorders. For this, we have asked the different groups to go through diseases one-by-one and report any discrepancies. To date, one group is near completion.

In order to raise awareness and spread the word, we have submitted two abstracts on our initiative: one to the Immunogenomics of Diseases meeting this February on behalf of the whole group, as well as an abstract to ISSAID, focused on the autoinflammatory group headed by Anna Simon.  Meanwhile, Matthias has set up a page with email lists to facilitate easier communication.

Next steps  

We will begin the annotation process using the collected publications and tools from Peter’s team. As the first round of annotation is completed, we will ask for help from different groups to review the automated annotation from the publications for correctness. Until then, we would like the groups to focus on three main things:

  • ·       Spreading the word by talking to collogues, mentioning the initiative or by submitting abstracts and talking at conferences.
  • ·       Finishing collection publications so that the all- disease-wide annotation process can start
  • ·       Review disease ontology structure regarding all remaining diseases

 Thank you again for your participation and support so far. Let’s continue working towards an accurate and comprehensive HPO repertoire for immune mediated disorders!

Julia and Matthias