Sentence examples for missing a mutation from inspiring English sources

The method used for studying this gene was selected to minimize the risk of missing a mutation for technical reasons.

Thus, likely false positives were targeted for sequencing as the consequences of inadvertently missing a mutation are more serious than calling a false positive.

Based on our finding of the low incidence of MSH6 mutations in HNPCC-suspected CRC patients and the percentage of non-MSI-high tumours in MSH6 mutation carriers from the literature, the probability of missing a mutation by not performing mutation analyses in patients with non-MSI-high CRCs is expected to be extremely low.

To estimate the false negative error rate, the total number of ancestral mutations that should have been scored (equal to the product of the number of mutations in the ancestor and the number of MA lines) was compared to the number actually scored, and the probability of missing a mutation was calculated.

We can illustrate the low probability of missing a mutation in our approach, by comparing it to another probability that of not observing a mutation on a coalescent tree because it has mutated back on the same link and thus is completely unobservable.

One possibility is that we have missed a mutation in gene/s either directly or indirectly involved in the MAPK pathway that is not included on the targeted panel used to screen our samples.

Interestingly, the single strain missing a candidate mutation (SR4152) was typed as VSSA by BMD and PAP-AUC (supplementary table S3, Supplementary Material online).

When a patient is excluded from further HNPCC analysis based on a non-MSI-high pattern in tumour DNA, a second MSI analysis in the family should always be considered to avoid missing a germline mutation because of an initial test in a phenocopy.

The researchers report in this week's issue of Nature that the leptin genes in each child were missing a nucleotide, a mutation that resulted in shortened, malfunctioning leptin molecules.

It has to be mentioned that, since information on the BRCA1/2 mutation status is not always known in the latter group and genetic testing is missing a number of mutations, it is likely that some of these patients are in fact mutation carriers.

First, a missing signature mutation caused a more conservative estimate (more ancestral haplogroup) by EMMA in three cases (AY922257, HQ873519, JQ797975).