Personalised medicine is making great progress: facilitating secure access to human data for researchers and clinicians has become key to achieving this. The Beacon aims to promote this by delivering a federated infrastructure for data discovery of human genetic and phenotypic data.
The Beacon is a protocol for sharing information about the presence or absence of a specific mutation in a given dataset. The latest version (v2) of the Beacon also allows to: filter by variables or interest (e.g. gender or age), trigger the data access process, and consult clinical annotation about the variants found, among others. Further, it inserts a brand new feature that was developed for CINECA’s needs: a cohort model, allowing researchers to find appropriate populations (e.g., a group of patients with a specific disease) to help answer their research questions.
Watch the public recording of the presentation here