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The absolute number of predicted binding sites is highest in exon 6a, which gives rise to the longest SHOX 3'UTR known to date, while the binding site density is highest in exon 6b.
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Notably, the frequency of C→T (G→A) was the highest in exons among the genomic categories regardless of whether we calculated directly, normalized with the nucleotide content, or removed the SNPs involved in the CpG effect.
The percentage of point mutations was much higher in exon 1 (50.7%) than in exon 2 and 3 (29.6 and 23.1, respectively).
The frequency was significantly higher in exon 4 (P = 5.07 × 10−8) and lower in exon 5 (P = 4.07 × 10−5).
Also, the frequency of mutation was higher in exon 2 than exon 1 (3 cases in exon 2 compared with 1 case for exon 1).
102 Nevertheless, at the opposite, disease control rate (for at least 6 months) were higher in exon 9 mutations (58%) and wild-type GISTs (56%) than in exon 11 mutations (34%).
The mean daily doses of imatinib only tended to be slightly higher in exon 9 or wt KIT patients compared with exon 11 KIT patients (649 mg vs 590 mg daily, respectively; P=0.07 using t-test).
The reported level of homology between human and mouse H19 (an lncRNA controlling the imprinted expression of Igf2r) is approximately 66%, while that between human and mouse Xist is approximately 49% (but much higher in exon regions) [ 36].
The GC contents were substantially higher in exons than in introns and intergenic regions (Table 1).
Within genes, more aligned positions were located in introns than in exons, but the mean sequencing depth was higher in exons than in introns (Table 2).
For all thresholds α the proportion of SNPs with p < α is higher in exons than in the whole gene (purple triangle in Figure 3).
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