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ExonViz: A website and Python package to visualize transcripts and genetic variants

van den Berg, R. R.; Lauffer, M. C.; Laros, J. F. J.

2024-09-20 genetic and genomic medicine
10.1101/2024.09.18.24313945 medRxiv
Show abstract

Visualization of genes and genetic variants as well as transcript structure is essential within the human genetics community. Such illustrations represent a key tool in communicating genetic concepts and facilitating discussions on therapeutic interventions. There currently are no easily usable tools which allows the users to draw all features required for a comprehensive overview of a transcripts structure and the localisation of variants of interest. Here we introduce ExonViz, an online application that creates biologically accurate transcript figures, including features such as coding regions, genetic variants and exon reading frames. Transcript definitions are automatically retrieved from Ensembl and RefSeq. We illustrate the full functionality of ExonViz by generating a figure for all variants reported in ClinVar for CYLD. ExonViz is available online via the Dutch Center for RNA Therapeutics website and can be installed locally via PyPI.

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