ExonViz: Transcript visualization made easy

The Journal of Open Source Software, vol. 11, pp. 10485

Abstract

Transcripts of a gene contain one or more exons, which encode the functional parts of the transcript, and introns, which are removed in a process called splicing.A single gene typically encodes multiple transcripts by including different exons.Protein coding genes include one or more coding exons, which encode a protein using three-letter sequences called codons.These codons do not necessarily coincide with exon boundaries, because a single codon can span two exons.If the codon boundaries of adjacent exons are not aligned, an often detrimental frame shift is introduced.Taking exon boundary reading frames, which we will call exon boundary frames, into account is crucial when considering the effect of mutations and when designing genetic therapies such as exon skipping.

Authors 3

1. Redmar R. van den Berg 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

   Institute of Developmental and Regenerative Medicine, Department of Peadiatrics, University of Oxford, Oxford, United Kingdom

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