Abstract

The concept of a genomics "Beacon" refers to facilitating connection between genomic data suppliers, developers, and researchers interested in acquiring genetic variation data. The Beacon system was intended to be simple: an API that allows users to query genomic data collections for the presence of specified genetic variations and receive a simple "Yes" or "No" response. The term "Beacon" was chosen to represent the goal of illuminating the hitherto opaque world of genetic data sharing through widespread engagement. The Beacon Project, which became one of the initial Global Alliance for Genomics and Health (GA4GH) Driver Projects, was warmly welcomed by both members of the GA4GH developer community and genomic resource providers.

About This Material

This is a Hands-on Tutorial from the GTN which is usable either for individual self-study, or as a teaching material in a classroom.

Questions this will address

• What does the term "Beacon" refer to in the context of genomic databases?
• How can the Beacon2 CNV tool be utilized to verify the presence of specific Copy Number Variants (CNVs)?

Learning Objectives

• Comprehend the concept of Beacon databases and their role in genomic research.
• Demonstrate proficiency in querying Beacon databases to identify and analyze specific Copy Number Variants (CNVs).