Matches in SemOpenAlex for { <https://semopenalex.org/work/W2294814189> ?p ?o ?g. }
- W2294814189 abstract "Abstract Patients with chromosome 13q deletion or normal cytogenetics represent the majority of chronic lymphocytic leukaemia (CLL) cases, yet have relatively few driver mutations. To better understand their genomic landscape, here we perform whole-genome sequencing on a cohort of patients enriched with these cytogenetic characteristics. Mutations in known CLL drivers are seen in only 33% of this cohort, and associated with normal cytogenetics and unmutated IGHV . The most commonly mutated gene in our cohort, IGLL5 , shows a mutational pattern suggestive of activation-induced cytidine deaminase (AID) activity. Unsupervised analysis of mutational signatures demonstrates the activities of canonical AID (c-AID), leading to clustered mutations near active transcriptional start sites; non-canonical AID (nc-AID), leading to genome-wide non-clustered mutations, and an ageing signature responsible for most mutations. Using mutation clonality to infer time of onset, we find that while ageing and c-AID activities are ongoing, nc-AID-associated mutations likely occur earlier in tumour evolution." @default.
- W2294814189 created "2016-06-24" @default.
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- W2294814189 date "2015-12-07" @default.
- W2294814189 modified "2023-10-18" @default.
- W2294814189 title "Whole-genome sequencing reveals activation-induced cytidine deaminase signatures during indolent chronic lymphocytic leukaemia evolution" @default.
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- W2294814189 doi "https://doi.org/10.1038/ncomms9866" @default.
- W2294814189 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4686820" @default.
- W2294814189 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26638776" @default.
- W2294814189 hasPublicationYear "2015" @default.
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