Name
Expanding and evolving the Federated Variant Level Matching platform for rare disease
Date & Time
Thursday, April 3, 2025, 4:00 PM - 5:30 PM
Description

The goal of this session is to focus on joining groups across the federated Variant-Level Matching (VLM) platform leveraging Beacon v2.0 API to connect datasets for rare disease discovery and diagnosis. Brief updates from current nodes in the network will be provided as well as an overview of the current technical and policy specifications of the network. We will discuss enhancements to better enable variant type queries for gene discovery, as well as expanding the scope of features and data types exchanged to include structural variants, phenotypic annotations, and other data types to address unmet needs in the rare disease community. We will identify shared challenges and opportunities in interoperability, scalability, and data diversity with a focus on increasing global participation and impact.

Location Name
Monadnock
Full Address
Broad Institute of MIT and Harvard
Merkin Building
Cambridge, MA 02142
United States
Agenda