Mutational signatures are characteristic combinations of mutation types arising from specific mutagenesis processes such as DNA replication infidelity...
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TMB is defined as the number of somatic mutations/megabase whereas mutational signatures are distinct mutational patterns of single base substitutions,...
28 KB (3,503 words) - 12:41, 27 May 2025
relevant mutational signatures associated with BRCA1/BRCA2 deficiency, irrespective of whether these signatures are the dominant mutational process in...
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previously demonstrated to have a characteristic mutational signature. The same mutational signature was discovered in several cohorts of colon cancer...
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Cambridge in 2014. Alexandrov is known for developing the concept of mutational signatures together with Michael Stratton and colleagues at the Wellcome Sanger...
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Mutagen (category Mutation)
although not all necessarily are. All mutagens have characteristic mutational signatures with some chemicals becoming mutagenic through cellular processes...
51 KB (6,003 words) - 15:54, 19 May 2025
POLQ (section Polymerase theta's mutational signature)
DNA polymerase theta is an enzyme that in humans is encoded by the POLQ gene. This polymerase plays a key role in one of the three major double strand...
13 KB (1,464 words) - 06:10, 1 November 2024
context-dependent mutations can be represented in the form of a nonnegative matrix. This matrix can be further decomposed into components (mutational signatures) which...
66 KB (7,684 words) - 22:49, 25 April 2024
signature of phylogenetically related genomes is similar. Gene signature mutational signatures Alignment-free sequence analysis Bioinformatics Computational...
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Steven G.; Tan, Patrick; Teh, Bin Tean (7 August 2013). "Genome-Wide Mutational Signatures of Aristolochic Acid and Its Application as a Screening Tool". Science...
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DNA rearrangements. COSMIC also catalogues mutational signatures in human cancer through the COSMIC Signatures group, which represents a collaboration between...
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frequency, distribution and mutation patterns of cancer. She showed that it was possible to identify mutational signatures using downstream analysis, and...
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subjects for optimal benefit of specific treatments. Genomic signature Mutational signatures Gene expression profiling Gene expression profiling in cancer...
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Guan, P.; Weng, W.-H.; Siew, E. Y.; Liu, Y. (2013). "Genome-Wide Mutational Signatures of Aristolochic Acid and Its Application as a Screening Tool". Science...
25 KB (2,619 words) - 18:48, 3 June 2025
genetic drift. For example, smaller populations with heavy mutational input (high rates of mutation) are prone to increases of genetic variation which lead...
119 KB (14,264 words) - 20:05, 22 May 2025
Fleischmann Z, Tse JY, Decker B (March 2022). "Prevalence of UV Mutational Signatures Among Cutaneous Primary Tumors". JAMA Network Open. 5 (3): e223833...
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have distinctive mutational signatures that reflect differences in the contributions of mutational pathways. Mutational signatures have proved useful...
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cancer to develop in an individual can be identified by analyzing mutational signatures from genomic sequencing of tumor DNA. For example, this can reveal...
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cancer-specific research but are not reflected in economics and policy. Mutational signatures of various cancers, for example, could reveal further causes of...
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plasma tend to occur on longer cfDNA fragments, and to lack specific mutational signatures such as those associated with tobacco smoking in lung cancer that...
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the prevalence of breast cancer biomarkers and metabolite signatures indicated unique signatures that are currently undergoing further validation in larger...
18 KB (1,766 words) - 08:36, 28 May 2025
Tse, Julie Y.; Decker, Brennan (23 March 2022). "Prevalence of UV Mutational Signatures Among Cutaneous Primary Tumors". JAMA Network Open. 5 (3): e223833...
35 KB (4,335 words) - 04:29, 1 January 2025
manifested in different context-dependent mutational profiles. It can be explored by COSMIC mutational signatures or MutaGene. Tumour cells can also show...
69 KB (7,134 words) - 17:11, 5 April 2025
Steele, E.J. (2013). "Critical analysis of strand-biased somatic mutation signatures in TP53 versus Ig genes, in genome -wide data and the etiology of...
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Scott Lawrence is an American geneticist best known for his work on mutational signatures. Lawrence is an assistant professor of pathology at the Harvard...
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MCV-induced MCC, these tumors tend to have much higher mutational burdens with mutational signatures characteristic of UV damage. Genes frequently mutated...
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and cancer: Critical analysis of strand-biased and codon-context mutation signatures". DNA Repair. 45 (2016): 1–2 4. doi:10.1016/j.dnarep.2016.07.001...
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cross-link where it was shown on the basis of the difference in the mutational signatures of the two polymerases, that pol IV and pol V compete for TLS of...
59 KB (7,106 words) - 00:05, 4 June 2025
See-Tong; Tan, Patrick; Teh, Bin Tean; Rozen, Steven G. (Dec 2015). "Mutation signatures implicate aristolochic acid in bladder cancer development". Genome...
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Mutationism is one of several alternatives to evolution by natural selection that have existed both before and after the publication of Charles Darwin's...
51 KB (5,513 words) - 11:30, 24 May 2025