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Title: The Usage of Exon-Exon Splice Junctions for the Detection of Alternative Splicing using the REIDS model
Authors: VAN MOERBEKE, Marijke 
KASIM, Adetayo 
Issue Date: 2018
Source: SCIENTIFIC REPORTS, 8 (Art N° 8331)
Abstract: Alternative gene splicing is a common phenomenon in which a single gene gives rise to multiple transcript isoforms. The process is strictly guided and involves a multitude of proteins and regulatory complexes. Unfortunately, aberrant splicing events have been linked to genetic disorders. Therefore, understanding mechanisms of alternative splicing regulation and differences in splicing events between diseased and healthy tissues is crucial in advancing personalized medicine and drug developments. We propose a linear mixed model, Random Effects for the Identification of Differential Splicing (REIDS), for the identification of alternative splicing events using Human Transcriptome Arrays (HTA). For each exon, a splicing score is calculated based on two scores, an exon score and an array score. The junction information is used to rank the identified exons from strongly confident to less confident candidates for alternative splicing. The design of junctions was also discussed to highlight the complexity of exonexon and exon-junction interactions. Based on a list of Rt-PCR validated probe sets, REIDS outperforms AltAnalyze and iGems in the % recall rate.
Notes: Van Moerbeke, M (reprint author), Hasselt Univ, Interuniv Inst Biostat & Stat Bioinformat, B-3500 Hasselt, Belgium.
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ISSN: 2045-2322
e-ISSN: 2045-2322
DOI: 10.1038/s41598-018-26695-9
ISI #: 000433291300034
Rights: Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. Te images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit
Category: A1
Type: Journal Contribution
Validations: ecoom 2019
Appears in Collections:Research publications

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