Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications.

Romy Walker Ji-Hoon E JooKhalid MahmoodMark ClendenningJulia ComoSusan G PrestonSharelle L Joseland Bernard J PopeAna B D MedeirosBrenely V MurilloNicholas PachterKevin SweetAllan D SpigelmanAlexandra GrovesMargaret GleesonKrzysztof BernatowiczNicola PoplawskiLesley AndrewsEmma HealeySteven GallingerRobert C GrantAung K WinJohn L HopperMark A JenkinsGiovana T TorrezanChristophe Rosty Finlay A MacraeIngrid M WinshipDaniel D Buchanan Peter Georgeson

Published in: medRxiv : the preprint server for health sciences (2024)

cases, respectively. Therefore, testing adenomas may improve the identification of biallelic cases and facilitate variant classification, ultimately enabling opportunities for CRC prevention.

Keyphrases

deep learning
machine learning
intellectual disability
bioinformatics analysis
genome wide
copy number
autism spectrum disorder
gene expression
climate change
young adults
genome wide identification