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psichomics: graphical application for alternative splicing quantification and analysis

Saraiva-Agostinho, Nuno ; Barbosa-Morais, Nuno L

Nucleic acids research, 2019-01, Vol.47 (2), p.e7-e7 [Periódico revisado por pares]

England: Oxford University Press

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  • Título:
    psichomics: graphical application for alternative splicing quantification and analysis
  • Autor: Saraiva-Agostinho, Nuno ; Barbosa-Morais, Nuno L
  • Assuntos: Alternative Splicing ; Breast Neoplasms - genetics ; Breast Neoplasms - mortality ; Computer Graphics ; Female ; Gene Expression ; Humans ; Methods Online ; Software ; Survival Analysis
  • É parte de: Nucleic acids research, 2019-01, Vol.47 (2), p.e7-e7
  • Notas: ObjectType-Article-1
    SourceType-Scholarly Journals-1
    ObjectType-Feature-2
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  • Descrição: Abstract 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.
  • Editor: England: Oxford University Press
  • Idioma: Inglês

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