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Disease annotations

The HPO team is transitioning to GA4GH Phenopacket format for annotating cases and diseases. We have created the phenopacket store as a repository for individual-level information. We are working on the pyphetools package to streamline annotation of phenopackets.

Our software for this application is in development. We will discuss current options during the workshop.

RareLink is a new tool that enables efficient and accurate entry of HPO and other data related to rare disease medicine.

RareLink is a tool for managing and processing rare disease data within the REDCap. RareLink aims to maximise the utility of REDCap by providing a comprehensive framework designed specifically for rare disease (RD) research and care. RareLink streamlines import of tabular data (e.g., Excel, relational database).

RareLink additionally provides a preconfigured data collection sheets based on the RD-CDM and user guides for manual data capture to ensure precision and correctness of data captured. Further, RareLink defines guidelines for developing more specialised REDCap sheets around the RD-CDM so that the data captured can also be processed by our framework to generate FHIR resources and Phenopackets.

RareLink is designed to be deployed and installed in a local REDCap instance. Using the guidelines provided, or using our preconfigured RareLink-REDCap and setting up the RareLink API, you can ensure that the data captured is compliant with the our framework to generate FHIR resources and Phenopackets.

We will typically provide a short introduction to RareLink at HPO workshops.