🎥 The recording of #ESHG Webinar Series – Episode 6 with Serena Nik-Zainal is now online!

🧬 “Recent advances in mutational signatures and clinical applications”

Watch the full talk here 👉 youtu.be/_Up1IGmEiN8
#Genetics #Genomics #MutationalSignatures #eshgWebinar

However, some of these patterns—known as #MutationalSignatures —are hard to detect, which limits their use for predicting patient outcomes or deciding on the best therapy.

Benchmarking 13 tools for mutational signature attribution, including a new and improved algorithm Abstract. Mutational signatures are characteristic patterns of mutations caused by endogenous mutational processes or by exogenous mutational exposures. Th

Interesting paper on the fickle nature of mutational signatures. We've noticed variability in signature calls—this helps to explain why. The newer methods look promising, but I'd like to see error estimates (e.g. SBS1: 22 ± 5 %, SBS5: 38 ± 10 %).
#CancerGenomics #MutationalSignatures #Bioinformatics

My amazing pal Gene Koh strikes again! #InDel #CancerGenomics #MutationalSignatures @naturegenet.bsky.social

Featured today by @MSKLibrary: A Dirichlet-multinomial mixed model for determining differential abundance of mutational signatures

#MutationalSignatures #DirichletMultinomial #GenomicAnalysis #CancerGenomics #Bioinformatics

bmcbioinformatics.biomedcentral.com

We wanted to then explore whether any somatic characteristics were associated with these 3 scores using #mutationalsignatures within the TCGA.. for the smoking PRS we found an association for smoking related signatures and TMB.. This was replicated this in an independent cohort..

MSA: reproducible mutational signature attribution with c... Background Mutational signatures proved to be a useful to...

#mutationalsignatures
bmcbioinformatics.biomedcentral.com/articles/10.1186/s12859-...