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psichomics: graphical application for alternative splicing quantification and analysis

delete2018-10-02
delete27
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OA
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N
Nuno Saraiva-Agostinho
N
Nuno L. Barbosa‐Morais *
DOI:10.1093/nar/gky888delete
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Abstract

Abstract

En 中文
Alternative pre-mRNA splicing generates functionally distinct transcripts from the same gene and is involved in the control of multiple cellular processes, with its dysregulation being associated with a variety of pathologies. The advent of next-generation sequencing has enabled global studies of alternative splicing in different physiological and disease contexts. However, current bioinformatics tools for alternative splicing analysis from RNA-seq data are not user-friendly, disregard available exon-exon junction quantification or have limited downstream analysis features. To overcome such limitations, we have developed psichomics, an R package with an intuitive graphical interface for alternative splicing quantification and downstream dimensionality reduction, differential splicing and gene expression and survival analyses based on The Cancer Genome Atlas, the Genotype-Tissue Expression project, the Sequence Read Archive project and user-provided data. These integrative analyses can also incorporate clinical and molecular sample-associated features. We successfully used psichomics in a laptop to reveal alternative splicing signatures specific to stage I breast cancer and associated novel putative prognostic factors.
Keywords:
IDENTIFICATION
SURVIVAL
REVEALS
EVENTS
PROTEINS
PACKAGE
GENES
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Journal

Nucleic Acids Research cover
Nucleic Acids Research
IF:
13.1
Papers:
3.6W
Citations:
29.0W

Organization

U
universidade de lisboa
Scholars:
3.4W
Papers: 3.1W
Citations: 29