Annotation and curation of human genomic variations (2018-Variations)

This implementation study aims to understand the existing infrastructure, resources and protocols for human genome variation annotation and curation. Work focuses on processes that can be automated to support interpretation of high-throughput genome sequencing results. The outcome will be a report that describes the current status within ELIXIR member states, identified requirements and potential solutions. The report will be part of the ELIXIR Human Genomics and Translational Data Services strategy and roadmap.

Metabolite Identification

Metabolomics aims to provide novel insights into the biochemical reactions of organisms by characterising the presence and concentrations of low molecular weight compounds from biological samples. The primary analytical tools for such high-throughput data collection are mass spectrometry (MS), often preceded by chromatographic or electrophoretic separation technologies, and nuclear magnetic resonance spectroscopy (NMR).

FAIRification of Genomic Tracks

We propose to advance the application of FAIR principles to metadata for human genomic tracks by developing recommendations for metadata as well as algorithmic tools, to apply the recommendations to tracks from selected hubs associated with the Ensembl TrackHub Registry, to implement a track search service that integrates metadata from different track hubs, and to test the implementation with selected track-oriented analytical tools. The recommendations will form a basis for developing a standard for metadata on genomic tracks.