Modeling the relationship between gene expression and mutational signature.
Quant Biol
; 11(1): 31-43, 2023 Mar.
Article
in En
| MEDLINE
| ID: mdl-37032811
ABSTRACT
Background:
Mutational signatures computed from somatic mutations, allow an in-depth understanding of tumorigenesis and may illuminate early prevention strategies. Many studies have shown the regulation effects between somatic mutation and gene expression dysregulation.Methods:
We hypothesized that there are potential associations between mutational signature and gene expression. We capitalized upon RNA-seq data to model 49 established mutational signatures in 33 cancer types. Both accuracy and area under the curve were used as performance measures in five-fold cross-validation.Results:
A total of 475 models using unconstrained genes, and 112 models using protein-coding genes were selected for future inference purposes. An independent gene expression dataset on lung cancer smoking status was used for validation which achieved over 80% for both accuracy and area under the curve.Conclusion:
These results demonstrate that the associations between gene expression and somatic mutations can translate into the associations between gene expression and mutational signatures.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Type of study:
Prognostic_studies
Language:
En
Journal:
Quant Biol
Year:
2023
Document type:
Article
Affiliation country:
United States