Sentence examples for mutations with functional from inspiring English sources

These algorithms can distinguish mutations with functional effects from other neutral mutations.

As such, it is predicted that mutations with functional properties will associate with different phenotypes or with varying phenotypic severity/expression in different genetic backgrounds.

Most of the mutations in our discovery did not show gene level expression difference between mutated samples and wild type samples, suggesting that pathway level gene expression change is beneficial to discover mutations with functional impact.

However, due to in vivo selection of mutations that confer advantage for cell survival and proliferation, the heteroplasmic mutations with functional consequences may eventually become homoplasmic or eliminated (disadvantage mutations).

Comparison of the R i, values of a series of inactivated and minimally active splice sites revealed the minimum strength of functional splice sites (R i,min) to be at least 2.4 bits for the original donor and acceptor models of Stephens and Schneider (1992) (based on 103 mutations with functional validation, including 57 natural and 46 cryptic site activating mutations).

The variation consisted of a G to A transition leading to substitution of valine 539 by methionine and was initially interpreted as a missense mutation with functional impairment but turned out to be a polymorphism [ 42].

The analysis of the sequences did not evidence new mutations with a functional effect on the development of disease.

In addition, in our patient group we did not detect the R386H variation that had previously been associated with ASD, nor did we observe de novo or non-sense mutations with putative functional impact.

Since the efficiency of NMD for degrading mutant mRNAs from target genes is highly variable, we recently proposed that NMD may therefore play an important role in the selection of target gene mutations with a functional role in MSI carcinogenesis [14].

We successfully identified known recurrent drivers, as well as novel patient-specific somatic mutations with high functional potential.

In addition, targeting oxidative stress may help in the development of a therapeutic strategy for patients harboring such mutations or mutations with similar functional effects.