Testing For Associations Between Risk Factors And Mutational Signatures
Channel: R Consortium
Date: 2022-09-09

Ji-Eun Park, a graduate student at the University of North Carolina at Chapel Hill, gave a short talk at the BioConductor Conference 2022. Park gave her presentation on Testing For Associations Between Risk Factors And Mutational Signatures Via Bayesian Dirichlet-Multinomial Hierarchical Model.

Park began her presentation by explaining Mutational signatures when Somatic mutations occur throughout human life due to various mutagenic processes. These processes leave distinct patterns in the genome. Park gave an overview of COSMIC (Catalogue of Somatic Mutations In Cancer), the public site for many signatures. She also presented a Bayesian hierarchical model based on the Dirichlet-Multinomial distribution that determines the association between risk factors with mutational signatures across tumor samples from mutation counts. In addition, Park gave more information on how the team evaluated their method on data simulated from the generating model, as well as on breast cancer data from TCGA with reference to COSMIC signatures. The method is implemented as an R package, Diffsig, which the team at Chapel Hill plans to submit to Bioconductor. The presentation concluded with a short Q&A session.

Main Sections

0:00 Introduction
0:35 Mutational signatures 
1:30 COSMIC (Catalogue of Somatic Mutations In Cancer)
4:05 Existing methods
5:22 Diffsig
6:15 TCGA Breast cancer
9:54 Acknowledgements and Q&A 

More Resources 

Bioconductor Conference Site: https://bioc2022.bioconductor.org/ 
BioC2022 Github: https://github.com/Bioconductor/BioC2022 

Main Site: https://www.r-consortium.org/ 
News: https://www.r-consortium.org/news 
Twitter: https://twitter.com/Rconsortium 
LinkedIn: https://www.linkedin.com/company/r-consortium