#MutationalSignatures
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fergusofarrell.bsky.social
My amazing pal Gene Koh strikes again! #InDel #CancerGenomics #MutationalSignatures @naturegenet.bsky.social
April 11, 2025 at 9:34 PM
irbbarcelona.org
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.
July 8, 2025 at 10:50 AM
drthorn.bsky.social
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
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
academic.oup.com
May 29, 2025 at 11:24 AM
jirizavadil.bsky.social
Now out in full version, with figures, final pdf etc:
link.springer.com/article/10.1...
Some additional considerations of the broader context:
www.linkedin.com/feed/update/...
August 31, 2026 at 10:35 AM
alicefrolov.bsky.social
Copy-Number Signature Architecture of Chromosomal Instability

#CancerGenomics #ChromosomalInstability #CopyNumberSignatures #MutationalSignatures #GenomeInstability #ComputationalOncology #Bioinformatics #DataVisualization
Copy-Number Signature Architecture of Chromosomal Instability I am sharing a visualization summarizing the relative contribution of 11 copy-number (CN) signatures associated with chromosomal instability (CIN) across a pan-cancer cohort. I want to state explicitly at the outset that the underlying data are simulated. The figure is not derived from a specific patient dataset; rather, it is constructed to illustrate a literature-grounded trend consistent with published CIN signature frameworks, and should be interpreted as a conceptual rather than empirical result. The plot adopts a radar bar-style format, with each of the 11 CIN signatures rendered as an angular segment whose radial length encodes its mean relative activity across the simulated cohort. This layout was chosen to emphasize the compositional structure of CIN etiologies within a single sample space, allowing simultaneous inspection of dominant and subdominant signature contributions. Mechanistically, these signatures are intended to reflect distinct genomic scars: impaired homologous recombination and replication stress producing tandem duplications and focal amplifications, defective mitotic segregation and whole-genome doubling generating chromosome-arm and whole-chromosome copy-number changes, and breakage-fusion-bridge cycles yielding characteristic segment-size and copy-number jump distributions. The simulated architecture recapitulates the expected skew, with a small number of signatures accounting for the majority of aggregate activity while lower-frequency signatures capture ecDNA-associated amplification and chromothripsis-like patterns. I offer this figure primarily as a communication and pedagogical aid for discussing how CN feature distributions - segment size, breakpoint count, copy-number state, and change-point magnitude - are decomposed into interpretable components.
August 19, 2026 at 10:52 PM
eshg.bsky.social
🎥 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
ESHG Webinar Series Episode 5 with Serena Nik-Zainal
Recent advances in mutational signatures and clinical applications Mutational signatures are patterns of mutations that arise in DNA because of the processes that are occurring within a cell, in…
youtu.be
October 9, 2025 at 1:40 PM
msklibrary.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
March 13, 2025 at 3:03 PM
josh-atkins.bsky.social
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..
January 21, 2025 at 2:09 PM
josh-atkins.bsky.social
#mutationalsignatures
https://bmcbioinformatics.biomedcentral.com/articles/10.1186/s12859-021-04450-8
MSA: reproducible mutational signature attribution with c...
Background Mutational signatures proved to be a useful to...
bmcbioinformatics.biomedcentral.com
January 21, 2025 at 1:59 PM
df-antoran.bsky.social
Using this approach, we followed human #epithelioids for 8 months in continuous culture. #Mutationburden, #mutationalsignatures and #clonalcomposition remained remarkably stable over time, opening the door to #longitudinal studies of #clonalevolution in human tissues in vitro.
June 10, 2026 at 1:43 PM