Sentences with phrase «exonic mutations»

The tool help studying intronic and exonic mutations affecting pre-mRNA splicing signals acceptor / donor splice sites as well as branch points or auxiliary splicing signals such as Exonic Splicing Enhancers (ESE) and Exonic Splicing Silencers (ESS).

Not exact matches

To identify segments across the intronic and exonic regions of the BRCA1 or BRCA2 genes associated with different breast vs ovarian cancer risks, we created bins of mutations by base pair location (Figure 1).

Overall, 1.22 % of mutations were exonic, an enrichment of 28.7 % over simulated models of random mutation distribution.

Notably, the de novo mutation rates in this study were higher in exonic regions regardless of the paternal age.

While next - generation sequencing has accelerated the discovery of human disease genes, progress has been largely limited to the «low hanging fruit» of mutations with obvious exonic coding or canonical splice site impact.

In addition to upregulating HDR, NHEJ must be downregulated to prevent the introduction of new mutations by CRISPR; editing exonic regions comes with much more risk than the intronic editing used in the exon skipping approaches here.