Julia Pazmandi, Austria

Ludwig Boltzmann Institute Rare and Undiagnosed Diseases

Presenter Of 1 Presentation

Working Party Diagnostics

HUMAN PHENOTYPE ONTOLOGY IMMUNE MEDIATED DISORDERS CONSORTIUM

Lecture Time
09:10 - 09:25
Room
Gold
Date
21.09.2019, Saturday
Session Time
08:25 - 09:25
Presentation Topic
Diagnostics

Abstract

Background and Aims

The need for accurate metadata to describe clinical information not only in a genetic manner, but also phenotypically is increasingly clear. Data structures such as the Human Phenotype Ontology (HPO) and disease ontologies such as OrphaNet aim to provide standardized vocabularies of phenotypic abnormalities and human diseases.HPO and OrphaNet enable efficient patient data exchangeand facilitate seamless communication between clinicians and researchers todetect novel disease-causing genes and address phenotype-genotype correlations. Despite the ongoing efforts, there are still crucial, disease-specific gaps in HPO and OrphaNet disease ontology when describing rare immune mediated disorders.

Methods

Our initiative brings together geneticists, medical doctors, bioinformatics, and immunologists. They are organized into functional working groups, with the aim to systematically re-evaluate and complete HPO and OrphaNet disease ontology terms, and re-annotate diseases.

Results

So far, we have successfully revised four branched of HPO terms: neutrophils, lymphocyte count structure, humoral immunity hierarchy, immune system physiology. Two of the revised branches are already implemented in HPO terminology. In addition, we have fully re-annotated 15 diseases with HPO terms and collected a repository of articles representing a knowledge-base detailing phenotypes of patients for more than 60 diseases.

Conclusions

With the continued systematic re-evaluation, we expect to (i) unify the nomenclature of patient phenotyping (ii) standardize patient characterization: clinician/researcher can characterize patients in a language independent manner (iii) allow for efficient data exchange between clinicians, laboratories and centers (iv) facilitate matching phenotypically similar patients to enable gene discovery (v) allow for similarity measures across diseases/shared phenotypes.

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