Matches in SemOpenAlex for { <https://semopenalex.org/work/W4213303860> ?p ?o ?g. }
Showing items 1 to 100 of
100
with 100 items per page.
- W4213303860 abstract "ABSTRACT Summary Clustered mutations are found in the human germline as well as in the genomes of cancer and normal somatic cells. Clustered events can be imprinted by a multitude of mutational processes, and they have been implicated in both cancer evolution and development disorders. Existing tools for identifying clustered mutations have been optimized for a particular subtype of clustered event and, in most cases, relied on a predefined inter-mutational distance (IMD) cutoff combined with a piecewise linear regression analysis. Here we present SigProfilerClusters, an automated tool for detecting all types of clustered mutations by calculating a sample-dependent IMD threshold using a simulated background model that takes into account extended sequence context, transcriptional strand asymmetries, and regional mutation densities. SigProfilerClusters disentangles all types of clustered events from non-clustered mutations and annotates each clustered event into an established subclass, including the widely used classes of doublet-base substitutions, multi-base substitutions, omikli , and kataegis . SigProfilerClusters outputs non-clustered mutations and clustered events using standard data formats as well as provides multiple visualizations for exploring the distributions and patterns of clustered mutations across the genome. Availability SigProfilerClusters is freely available at https://github.com/AlexandrovLab/SigProfilerClusters with support across most operating systems and extensive documentation at https://osf.io/qpmzw/wiki/home/ . Contact ebergstr@eng.ucsd.edu or L2alexandrov@health.ucsd.edu" @default.
- W4213303860 created "2022-02-24" @default.
- W4213303860 creator A5035014875 @default.
- W4213303860 creator A5057022401 @default.
- W4213303860 creator A5060373101 @default.
- W4213303860 creator A5080997789 @default.
- W4213303860 date "2022-02-14" @default.
- W4213303860 modified "2023-09-27" @default.
- W4213303860 title "Examining clustered somatic mutations with SigProfilerClusters" @default.
- W4213303860 cites W1992294575 @default.
- W4213303860 cites W2003665515 @default.
- W4213303860 cites W2008507595 @default.
- W4213303860 cites W2009720434 @default.
- W4213303860 cites W2032320097 @default.
- W4213303860 cites W2059300459 @default.
- W4213303860 cites W2064855999 @default.
- W4213303860 cites W2086239585 @default.
- W4213303860 cites W2091117089 @default.
- W4213303860 cites W2101836667 @default.
- W4213303860 cites W2129136620 @default.
- W4213303860 cites W2146128933 @default.
- W4213303860 cites W2147963772 @default.
- W4213303860 cites W2150677022 @default.
- W4213303860 cites W2152061559 @default.
- W4213303860 cites W2204392137 @default.
- W4213303860 cites W2204695746 @default.
- W4213303860 cites W2466657174 @default.
- W4213303860 cites W2585932789 @default.
- W4213303860 cites W2739980119 @default.
- W4213303860 cites W2909692684 @default.
- W4213303860 cites W2952240807 @default.
- W4213303860 cites W2956135855 @default.
- W4213303860 cites W2970967145 @default.
- W4213303860 cites W2973658374 @default.
- W4213303860 cites W2994898503 @default.
- W4213303860 cites W3004480399 @default.
- W4213303860 cites W3006500278 @default.
- W4213303860 cites W3028710516 @default.
- W4213303860 cites W3044175205 @default.
- W4213303860 cites W3047143891 @default.
- W4213303860 cites W3091969318 @default.
- W4213303860 cites W3165514149 @default.
- W4213303860 cites W3166546788 @default.
- W4213303860 doi "https://doi.org/10.1101/2022.02.11.480117" @default.
- W4213303860 hasPublicationYear "2022" @default.
- W4213303860 type Work @default.
- W4213303860 citedByCount "1" @default.
- W4213303860 countsByYear W42133038602023 @default.
- W4213303860 crossrefType "posted-content" @default.
- W4213303860 hasAuthorship W4213303860A5035014875 @default.
- W4213303860 hasAuthorship W4213303860A5057022401 @default.
- W4213303860 hasAuthorship W4213303860A5060373101 @default.
- W4213303860 hasAuthorship W4213303860A5080997789 @default.
- W4213303860 hasBestOaLocation W42133038601 @default.
- W4213303860 hasConcept C104317684 @default.
- W4213303860 hasConcept C121332964 @default.
- W4213303860 hasConcept C13514818 @default.
- W4213303860 hasConcept C141231307 @default.
- W4213303860 hasConcept C141674004 @default.
- W4213303860 hasConcept C151730666 @default.
- W4213303860 hasConcept C189206191 @default.
- W4213303860 hasConcept C2779343474 @default.
- W4213303860 hasConcept C2779662365 @default.
- W4213303860 hasConcept C41008148 @default.
- W4213303860 hasConcept C501734568 @default.
- W4213303860 hasConcept C54355233 @default.
- W4213303860 hasConcept C62520636 @default.
- W4213303860 hasConcept C70721500 @default.
- W4213303860 hasConcept C86803240 @default.
- W4213303860 hasConceptScore W4213303860C104317684 @default.
- W4213303860 hasConceptScore W4213303860C121332964 @default.
- W4213303860 hasConceptScore W4213303860C13514818 @default.
- W4213303860 hasConceptScore W4213303860C141231307 @default.
- W4213303860 hasConceptScore W4213303860C141674004 @default.
- W4213303860 hasConceptScore W4213303860C151730666 @default.
- W4213303860 hasConceptScore W4213303860C189206191 @default.
- W4213303860 hasConceptScore W4213303860C2779343474 @default.
- W4213303860 hasConceptScore W4213303860C2779662365 @default.
- W4213303860 hasConceptScore W4213303860C41008148 @default.
- W4213303860 hasConceptScore W4213303860C501734568 @default.
- W4213303860 hasConceptScore W4213303860C54355233 @default.
- W4213303860 hasConceptScore W4213303860C62520636 @default.
- W4213303860 hasConceptScore W4213303860C70721500 @default.
- W4213303860 hasConceptScore W4213303860C86803240 @default.
- W4213303860 hasLocation W42133038601 @default.
- W4213303860 hasOpenAccess W4213303860 @default.
- W4213303860 hasPrimaryLocation W42133038601 @default.
- W4213303860 hasRelatedWork W1489089338 @default.
- W4213303860 hasRelatedWork W2002128513 @default.
- W4213303860 hasRelatedWork W2078545882 @default.
- W4213303860 hasRelatedWork W2165640100 @default.
- W4213303860 hasRelatedWork W2409614280 @default.
- W4213303860 hasRelatedWork W2462807523 @default.
- W4213303860 hasRelatedWork W3198736242 @default.
- W4213303860 hasRelatedWork W4200520333 @default.
- W4213303860 hasRelatedWork W4205546893 @default.
- W4213303860 hasRelatedWork W2092874662 @default.
- W4213303860 isParatext "false" @default.
- W4213303860 isRetracted "false" @default.
- W4213303860 workType "article" @default.