Sentence examples for newly detected mutation from inspiring English sources

Thus, it is proposed that this newly detected mutation disrupts the MAX protein.

The second newly detected mutation is located in the 3' UTR at base pair position g.10182 (C/A).

A major focus of our investigations was the evaluation and meaningful economical combination of these software tools for the inference of different possible regulatory functions for each newly detected mutation.

After its initial submission, and whenever genotyping has been extended within a family as a result of a newly detected mutation, the pedigree is reviewed by a geneticist for internal consistency of the family structure, dates of birth, cancer diagnosis and death, and for Mendelian inheritance of known genotypes.

Now, after the discovery of two genetic causes, previous cases may be explained by the newly detected mutations.

For instance, an increased mutation rate has been observed during meiosis, and many of the newly detected mutations appeared to be correlated with neighbouring crossover events [ 38].

By designing and optimizing them immediately together with the PCR fragments, it is possible to set up a high throughput mutation validation routine for the newly detected mutations of each target gene, where any detected mutations can be readily sequenced.

The effect of the newly detected missense mutation (M158V) and previously reported mutations of 2 autopsied ALS-VCP cases (R155H and R159H) was analyzed with Mutation Taster (http://www.mutationtaster.org), Sorting Intolerant From Tolerant (SIFT, http://sift.bii.a-star.edu.sg/), and PolyPhen-2 (http://genetics.bwh.harvard.edu/pph/).edu/pph/

The effect of the newly detected missense mutation on VCP protein structure was analyzed by in silico analysis using different software.

However, the newly detected locus harbors a mutation that has sufficiently different odds ratios on the two traits, which strongly deviates from our null expectation and thus indicates bivariate statistical significance.

Among mutations newly detected after amprenavir treatment, I54M occurred in six cases, I54L in two cases, M46I in two cases, I47V in one case and I50V in one case.