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Andrea Winterbottom, Steve Trevanion, Imran Salam, Andy Yates, Paul Flicek (European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, United Kingdom)
Ensembl has provided visualisations of vertebrate and model organism genome annotation for 19 years. Over this time, available annotation has grown at an unprecedented rate, highlighted by a 3-fold increase in 3 years in known coding sequence variants. Ensembl visualisations provide a holistic view of genome annotation over a region such as a gene or transcript. Specifically our variation context visualisation, while usable at first, has been unable to cope with the increase in known variants, and meaningful insights are lost due to the low signal to noise ratio. Here we present a new visualisation showing the context of a single variant against a single transcript; a deliberate choice to mitigate the increases in variants. A variant is displayed against the protein and cDNA sequence alongside overlapping protein domains, its position within the transcript highlighted. The interface design process is led by users to identify key data, appropriate data volumes and components. User feedback shows this design to be more intuitive and informative than the prior version. This approach to refining existing interfaces will be a key methodology as we redesign the Ensembl genome browser.