pone.0259185.s003.zip (4.41 MB)
1–9 single base substitution mutational signatures of all nine polyps using deconstructSigs.
dataset
posted on 2021-11-29, 18:50 authored by Claudia Perne, Sophia Peters, Maria Cartolano, Sukanya Horpaopan, Christina Grimm, Janine Altmüller, Anna K. Sommer, Axel M. Hillmer, Holger Thiele, Margarete Odenthal, Gabriela Möslein, Ronja Adam, Sugirthan Sivalingam, Jutta Kirfel, Michal R. Schweiger, Martin Peifer, Isabel Spier, Stefan AretzThe top panel represents the mutational profile of the polyp and displays the proportion of mutations found in each trinucleotide context. The middle panel shows the reconstructed mutational profile created using deconstructSigs and by multiplying the calculated weights by the signatures. The bottom panel shows the error (SSE = sum-squared error) between the tumour mutational profile and the reconstructed mutational profile.
(ZIP)
History
Usage metrics
Categories
Keywords
whole exome sequencingrepetitive sequence contextmatched normal tissuefamilial adenomatous polyposis>- related tumourigenesis>- driven pathway>- associated polyposis21 – 42early colorectal carcinogenesischaracterise mutational signaturessomatic genetic variationsingle nucleotide variantsdiv >< pcolorectal adenomas causedcandidate driver genescolorectal adenomasdriver genessomatic variantspathogenic somaticsporadic adenomasnine adenomasdeficient adenomasvast majorityvariant profilingtwo familiesspecific functionsmall variantssmall insertionssignificantly higherone adenomamutational patternmismatch repairdata suggestcomprehensively analysedbase pairarid apc acvr2a 0001 ).
Licence
Exports
RefWorks
BibTeX
Ref. manager
Endnote
DataCite
NLM
DC