Annie Olry

TL;DR: The progress of the HPO project is reviewed, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology.

TL;DR: This analysis yields a conservative, evidence-based estimate for the population prevalence of rare diseases of 3.5–5.9%, which equates to 263–446 million persons affected globally at any point in time.

TL;DR: The HPO’s interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data and plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data.

TL;DR: Representation of rare diseases in Orphanet encompasses levels of increasing complexity: lexical (multilingual terminology), nosological (multihierarchical classifications), relational (annotations—epidemiological data—and classes of objects—genes, manifestations, and orphan drugs—integrated in a relational database), and interoperational (semantic interoperability).

TL;DR: The current and future bottlenecks to gene discovery are reviewed and strategies for enabling progress are suggested for enabling precision medicine for this patient population.