While the existing Beacon network permits the discovery of genomic variants, the expression of these variants on the functional level depends on a wide range of factors. Adding information on variants on the proteome level will help to filter and to prioritize variants of functional relevance. The presence of genomic variants on the proteome level implies that clinical proteomics data is highly likely to be identifiable and thus specially protected under the EU GDPR guidelines.
The goals of this study are to 1) develop rules and best-practice guidelines for dealing with this type of data and align these efforts with the genomics community, 2) generate a list of potential use cases, 3) assemble a prototypical cloud-enabled pipeline for the extraction of proteomic variants, and 4) build a prototype Beacon implementation that integrates the extracted protein-level variants using existing local analysis pipelines in ELIXIR Belgium and ELIXIR Germany, and use it as a “proof of concept” to integrate proteomics data into the Beacon network.
The study is a joint effort of EMBL-EBI (Juan Antonio Vizcaíno), ELIXIR Belgium (Lennart Martens) and ELIXIR Germany (Oliver Kohlbacher).
1/11/2018 - 30/9/2019