Evidence map›Paper›PMID 39660256›Full record

ArticleNAR genomics and bioinformatics2024

IsopretGO-analysing and visualizing the functional consequences of differential splicing.

Guy Karlebach, Peter Hansen, Kristin Köhler, Peter N Robinson

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Article in NAR genomics and bioinformatics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Guy KarlebachThe Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
Peter HansenThe Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.ORCID https://orcid.org/0000-0001-5535-2845
Kristin KöhlerBerlin Institute of Health at Charité-Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany.
Peter N RobinsonThe Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.ORCID https://orcid.org/0000-0002-0736-9199

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Gene Ontology overrepresentation analysis (GO-ORA) is a standard approach towards characterizing salient functional characteristics of sets of differentially expressed genes (DGE) in RNA sequencing (RNA-seq) experiments. GO-ORA compares the distribution of GO annotations of the DGE to that of all genes or all expressed genes. This approach has not been available to characterize differential alternative splicing (DAS). Here, we introduce a desktop application called isopretGO for visualizing the functional implications of DGE and DAS that leverages our previously published machine-learning predictions of GO annotations for individual isoforms. We show based on an analysis of 100 RNA-seq datasets that DAS and DGE frequently have starkly different functional profiles. We present an example that shows how isopretGO can be used to identify functional shifts in RNA-seq data that can be attributed to differential splicing.

Identifiers

PMID39660256
PMCPMC11630322

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.