Article

Detecting and understanding meaningful cancerous mutations based on computational models of mRNA splicing

2023-12-07

Abstract excerpt

<h4>ABSTRACT</h4> Cancer research has long relied on non-silent mutations. Yet, it has become overwhelmingly clear that silent mutations can affect gene expression and cancer cell fitness. One fundamental mechanism that apparently silent mutations can severely disrupt is alternative splicing. Here we introduce Oncosplice , a tool that scores mutations based on models of proteomes generated using aberrant splicing...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5d0cd3ff-5c03-5449-b5c5-cd0a7e36bc2d
DOI: 10.1101/2023.12.05.23299582

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Detecting and understanding meaningful cancerous mutations based on computational models of mRNA splicingDOI 10.1101/2023.12.05.23299582Read

Detecting and understanding meaningful cancerous mutations based on computational models of mRNA splicing.Semantic proximity Read

Discovering cryptic splice mutations in cancers via a deep neural network frameworkSemantic proximity Read

Somatically Mutated Genes Under Positive and Negative Selection Found by Transcriptome Sequence Analysis Include Oncogene and Tumor Suppressor CandidatesSemantic proximity Read

Pan-cancer repository of validated natural and cryptic mRNA splicing mutationsSemantic proximity Read

Interpretation, stratification and evidence for sequence variants affecting mRNA splicing in complete human genome sequences.Semantic proximity Read

Using Machine Learning to Identify True Somatic Variants from Next-Generation SequencingSemantic proximity Read

Landscape of human protein-coding somatic mutations across tissues and individualsSemantic proximity Read

Functional and <i>in-silico</i> interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disordersSemantic proximity Read

Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.Semantic proximity Read

The somatic mutation landscape of the human bodySemantic proximity Read

ISOWN: accurate somatic mutation identification in the absence of normal tissue controls.Semantic proximity Read

SomaMutDB 2.0: A comprehensive database for exploring somatic mutations and their functional impact in normal human tissuesSemantic proximity Read