Date: 11th November 2021
Time: 16:00-17:00 CET
Materials: Slides The Beacon: a data discovery solution in genomics and health
Contact: Lauren Fromont, Marta Lloret Llinares
Overview
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.
In this webinar, the Beacon team at CRG will introduce you to the Beacon v2, its features, address security considerations, and illustrate a few use cases.
This webinar is part of the CINECA GA4GH Beacon series.
Target audience
Interested users and implementers.
Clinical researchers seeking data discovery tools.
Format
Public webinar
About the speaker
Lauren Fromont is a scientific project manager at the European Genomic-phenomic Archive (EGA) at the Centre for Genomic Regulation. A PhD in Biomedical Sciences from the University of Montreal, she specialized in Cognitive Neuroscience. She now coordinates projects funded by the European Commission (H2020) and is actively involved in the elaboration of data models in various clinical settings. She also coordinates data discovery activities at EGA, in particular in the context of Beacon. In parallel, she is involved in ELIXIR projects and GA4GH discovery streams initiatives.
About CINECA
The CINECA (Common Infrastructure for National Cohorts in Europe, Canada, and Africa) project aims to develop a federated cloud enabled infrastructure to make population scale genomic and biomolecular data accessible across international borders, to accelerate research, and improve the health of individuals across continents. CINECA will leverage international investment in human cohort studies from Europe, Canada, and Africa to deliver a paradigm shift of federated research and clinical applications. The CINECA consortium will create one of the largest cross-continental implementations of human genetic and phenotypic data federation and interoperability with a focus on common (complex) disease, one of the world’s most significant health burdens. CINECA has assembled a virtual cohort of 1.4M individuals from population, longitudinal and disease studies. Federated analyses will deliver new scientific knowledge, harmonisation strategies and the necessary ELSI framework supporting data exchange across legal jurisdictions enabling federated analyses in the cloud. CINECA will provide a template to achieve virtual longitudinal and disease specific cohorts of millions of samples, to advance benefits to patients. It will leverage partner membership of standards and infrastructures like the Global Alliance for Global Health, BBMRI, ELIXIR, and EOSC driving the state of the art in standards development, technical implementation and FAIR data.