Beacon+ - Genome Beacon concept with quantitative and metadata elements

ga4gh_query_principle.png This project aims to extend the GA4GH Beacon concept for metadata-rich queries, structural variation data and quantitative reporting. It is developed by the SIB Technology Group together with group of Michael Baudis at the University of Zurich.

  • Quantitative reporting => because somatic mutations in cancer, especially structural variations, occur at a very high rate and should be evaluated with regard of their prevalence in a given context
  • Metadata-rich queries => because metadata/clinical information is required to determine and query these contexts
  • Structural variations => because structural genome variations, e.g. copy number imbalances (CNV and somatic CNA) or translocation events, contribute to genome variability and in the case of CNA are highly abundant in cancer

An implementation of the Beacon+ concept based on the arrayMap dataset can be found at

Table of Contents

arrayMap_SIB_GA4GH.png Beacon Network

Topic attachments
I Attachment Action Size Date Who Comment
CNA_abundance_cancer.pngpng CNA_abundance_cancer.png manage 360 K 13 Nov 2015 - 13:18 MichaelBaudis Proportion of copy number imbalances in cancer genome for different diagnoses
arrayMap_SIB_GA4GH.pngpng arrayMap_SIB_GA4GH.png manage 71 K 13 Nov 2015 - 13:44 MichaelBaudis arrayMap-SIB-GA4GH
ga4gh_query_principle.pngpng ga4gh_query_principle.png manage 237 K 13 Nov 2015 - 08:37 MichaelBaudis Basic query structure for genomes + metadata
sib_logo_trans_background_low.pngpng sib_logo_trans_background_low.png manage 65 K 13 Nov 2015 - 13:28 MichaelBaudis SIB logo
Topic revision: r9 - 18 Oct 2016, MichaelBaudis
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