GA4GH Beacon

GA4GH Beacon enables global queries for genetic mutations across distributed genome databases to support variant discovery.


Key Features:

  • Global Connectivity: Connects disparate genome data collections to allow queries across distributed datasets.
  • Independence of Systems: Maintains autonomy of each participating database while allowing contribution to the global network.
  • Interoperability: Provides standardized interfaces that enable consistent interaction between heterogeneous genomic datasets.

Scientific Applications:

  • Mutation Discovery: Enables identification of specific genetic mutations across multiple genome databases to support studies of variants.
  • Collaborative Research: Facilitates linking independent datasets for large-scale investigations of genetic diversity and implications for health and disease.

Methodology:

Implements a standardized protocol for querying genomic data to ensure compatibility across various databases.

Topics

Collections

Details

Maturity:
Mature
Cost:
Free of charge
Tool Type:
api, web application
Operating Systems:
Linux, Windows, Mac
Added:
9/26/2017
Last Updated:
6/16/2020

Operations

Publications

Unknown Authors. A federated ecosystem for sharing genomic, clinical data. Science. 2016;352(6291):1278-1280. doi:10.1126/science.aaf6162. PMID:27284183.

Documentation