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Cited by 478 publications
(440 citation statements)
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References 39 publications
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“…Finally, we tested if residual mutation rates were related with age of individuals for each tissue individually (Figure 3b). Only two tissues showed a significant association between age and mutational rates (after FDR correction), namely sun-exposed skin (Rho = 0.31; qval = 1.19 x 10 -7 ) and esophagus-mucosa (Rho = 0.22; qval = 2.82 x 10 -3 ), as previously reported (Martincorena et al, 2015(Martincorena et al, , 2018Yokoyama et al, 2019). Using dN/dS as a measure of selection, we observed a lack of selection in highly-expressed genes at a pan-tissue level (dN/dS = 0.98, CI[95] = [0.92 -1.06]).…”
Section: Rate and Mutational Signatures Of Tissue-specific Somatic Musupporting
confidence: 82%
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“…Finally, we tested if residual mutation rates were related with age of individuals for each tissue individually (Figure 3b). Only two tissues showed a significant association between age and mutational rates (after FDR correction), namely sun-exposed skin (Rho = 0.31; qval = 1.19 x 10 -7 ) and esophagus-mucosa (Rho = 0.22; qval = 2.82 x 10 -3 ), as previously reported (Martincorena et al, 2015(Martincorena et al, , 2018Yokoyama et al, 2019). Using dN/dS as a measure of selection, we observed a lack of selection in highly-expressed genes at a pan-tissue level (dN/dS = 0.98, CI[95] = [0.92 -1.06]).…”
Section: Rate and Mutational Signatures Of Tissue-specific Somatic Musupporting
confidence: 82%
“…We therefore screened for late embryonic mosaic mutations (LEMMs, Figure 1b), which we defined as tissue-specific mutations at high cell fraction (VAF >= 0.2). Here, we excluded tissues previously shown to be affected by clonal expansion of mutated cells such as esophagus-mucosa, sun-exposed skin (Martincorena et al, 2015(Martincorena et al, , 2018Chalmers et al, 2017;Yizhak et al, 2019;Yokoyama et al, 2019) and whole blood (Acuna-Hidalgo et al, 2017), which also showed the highest somatic mutation rates in our analysis (Supp. Figure 3).…”
Section: Late Embryonic Mosaic Mutations Arising During Organogenesismentioning
confidence: 99%
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“…A fraction of these were likely acquired in the normal cells over the lifetime of these patients. However, based on the estimated mutation acquisition rate in normal gastro-oesophageal epithelium, only 0.5-1 signature 1 mutations would be expected to accumulate per lifeyear [25][26][27] . It is hence likely that the dMMR phenotype also contributes to the generation of signature 1 mutations.…”
Section: Mutational Signatures Reveal Mutational Processes Driving Evmentioning
confidence: 99%