ExonViz: A user friendly application to visualize transcripts and genetic variants

medRxiv

Abstract

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 transcript’s 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.

Authors 3

1. Redmar R. van den Berg corresponding Aachen Department of Hematology, Leiden University Medical Center Department of Human Genetics Dutch Center for RNA Therapeutics

   Leiden University Medical Center

   Affiliation as printed

   Department of Hematology, Leiden University Medical Center, The Netherlands

   Department of Human Genetics, Leiden University Medical Center, The Netherlands

   Dutch Center for RNA Therapeutics, Department of Human Genetics, Leiden University Medical Center, The Netherlands

2. Marlen C. Lauffer Aachen Department of Human Genetics Dutch Center for RNA Therapeutics

   Leiden University Medical Center

   Affiliation as printed

   Department of Human Genetics, Leiden University Medical Center, The Netherlands

   Dutch Center for RNA Therapeutics, Department of Human Genetics, Leiden University Medical Center, The Netherlands

3. Jeroen F. J. Laros Aachen Department of Human Genetics

   Leiden University Medical Center · National Institute for Public Health and the Environment

   Affiliation as printed

   Department of Bioinformatics and Computational Services, National Institute of Public Health and the Environment, The Netherlands

   Department of Human Genetics, Leiden University Medical Center, The Netherlands