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Article

iSoMAs: Finding isoform expression and somatic mutation associations in human cancers.

PLoS computational biology - 1 Mar 2025

Tan Hua, Gotea Valer, Jaiswal Sushil K, Seidel Nancy E, Holland David O, Fedkenheuer Kevin, Elkahloun Abdel G, Bang-Christensen Sara R, Elnitski Laura

Abstract excerpt

Aberrant alternative splicing, prevalent in cancer, impacts various cancer hallmarks involving proliferation, angiogenesis, and invasion. Splicing disruption often results from somatic point mutations rewiring functional pathways to support cancer cell survival. We introduce iSoMAs (iSoform expression and somatic Mutation Association), an efficient computational pipeline leveraging principal component analysis...

Read the complete abstract on PubMed

Topics

Humans
Neoplasms
Protein Isoforms
Mutation
Alternative Splicing
Computational Biology

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Gene Expression Regulation, Neoplastic

Gene Expression Profiling

Transcriptome

Principal Component Analysis

Source

Open in PubMed Open full text

Identifiers

PMID: 40053523
DOI: 10.1371/journal.pcbi.1012847
PMCID: PMC12052144

Genes

TP53

Provenance

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