Matches in SemOpenAlex for { <https://semopenalex.org/work/W2604059488> ?p ?o ?g. }
- W2604059488 abstract "Non-coding mutations may drive cancer development. Statistical detection of non-coding driver regions is challenged by a varying mutation rate and uncertainty of functional impact. Here, we develop a statistically founded non-coding driver-detection method, ncdDetect, which includes sample-specific mutational signatures, long-range mutation rate variation, and position-specific impact measures. Using ncdDetect, we screened non-coding regulatory regions of protein-coding genes across a pan-cancer set of whole-genomes (n = 505), which top-ranked known drivers and identified new candidates. For individual candidates, presence of non-coding mutations associates with altered expression or decreased patient survival across an independent pan-cancer sample set (n = 5454). This includes an antigen-presenting gene (CD1A), where 5’UTR mutations correlate significantly with decreased survival in melanoma. Additionally, mutations in a base-excision-repair gene (SMUG1) correlate with a C-to-T mutational-signature. Overall, we find that a rich model of mutational heterogeneity facilitates non-coding driver identification and integrative analysis points to candidates of potential clinical relevance." @default.
- W2604059488 created "2017-04-07" @default.
- W2604059488 creator A5025397698 @default.
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- W2604059488 date "2017-03-31" @default.
- W2604059488 modified "2023-10-16" @default.
- W2604059488 title "Non-coding cancer driver candidates identified with a sample- and position-specific model of the somatic mutation rate" @default.
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- W2604059488 doi "https://doi.org/10.7554/elife.21778" @default.
- W2604059488 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5440169" @default.
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- W2604059488 hasPublicationYear "2017" @default.
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