OARD: Open annotations for rare diseases and their phenotypes based on real-world data.

ABSTRACT: Diagnosis for rare genetic diseases often relies on phenotype-driven methods, which hinge on the accuracy and completeness of the rare disease phenotypes in the underlying annotation knowledgebase. Existing knowledgebases are often manually curated with additional annotations found in published case reports. Despite their potential, real-world data such as electronic health records (EHRs) have not been fully exploited to derive rare disease annotations. Here, we present open annotation for rare diseases (OARD), a real-world-data-derived resource with annotation for rare-disease-related phenotypes. This resource is derived from the EHRs of two academic health institutions containing more than 10 million individuals spanning wide age ranges and different disease subgroups. By leveraging onto

SUBMITTER: Liu C 

PROVIDER: S-EPMC9502051 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature