e-learning

Working with Beacon V2: A Comprehensive Guide to Creating, Uploading, and Searching for Variants with Beacons

Abstract

Beacon v2 is a data query protocol and API that allows the researcher to seek information about specific genomic variants of biomedical research and clinical applications from the data providers (Beacon provider) without

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?
  • How can MongoDB be employed to establish a Beacon tailored for your institution?
  • In what manner can variant data and metadata be readied into a format compatible with Beacons?
  • What are the steps involved in importing data into a Beacon seamlessly?
  • How does one perform queries on a Beacon to retrieve information about variants?

Learning Objectives

  • Comprehend the fundamental concepts and applications of Beacons
  • Apply skills in utilizing MongoDB to construct and manage Beacons
  • Analyze and transform variants and metadata into structures compatible with Beacon requirements
  • Execute a step-by-step process to import data into Beacons
  • Develop the ability to query Beacons for variants

Licence: Creative Commons Attribution 4.0 International

Keywords: Variant Analysis

Target audience: Students

Resource type: e-learning

Version: 3

Status: Active

Prerequisites:

  • Introduction to Galaxy Analyses
  • Mapping
  • Quality Control
  • Querying the University of Bradford GDC Beacon Database for Copy Number Variants (CNVs)
  • The Unix Shell
  • Version Control with Git

Learning objectives:

  • Comprehend the fundamental concepts and applications of Beacons
  • Apply skills in utilizing MongoDB to construct and manage Beacons
  • Analyze and transform variants and metadata into structures compatible with Beacon requirements
  • Execute a step-by-step process to import data into Beacons
  • Develop the ability to query Beacons for variants

Date modified: 2024-09-27

Date published: 2024-08-06

Authors: Katarzyna Kamieniecka, Khaled Jum'ah, Krzysztof Poterlowicz

Scientific topics: Genetic variation

External resources:

Activity log