Sentence examples for mutation screening technique from inspiring English sources

To address the issue of possible pathological copy number variations in hereditary recurrent fevers, we took advantage of the fact that the HRM mutation screening technique is already routinely used in our laboratories, and implemented a recently described strategy that combines point mutation and gene rearrangement detection in a single assay (qPCR-HRM).

There is no recommendation for optimal mutation screening technique.

This study used MCA as a primary mutation screening technique before DNA sequencing.

Given our careful mutation screening technique, we believe this would be too small of a number of cases to influence the percentage methylation in each group.

In addition, we used a modification of a sensitive mutation screening technique that we have previously developed to facilitate the rapid detection of LKB1 mutations (Janne et al, 2006).

The prevalence of mutations in BRCA1/2 genes in these South African studies varies by inclusion criteria, ethnicity and mutation screening techniques used.

The frequency of BRCA1 and BRCA2 mutations in these studies again varies according to study design (cohort, age that is considered 'early onset', mutation screening techniques) and population.

It is conceivable that the deviations of the reported frequencies of the oncogenic mutations among the limited studies so far might reflect primarily differences in the mutation screening techniques and strategies employed.

We have analysed 81 families with a history of breast and/or ovarian cancer for the presence of germline mutations in BRCA2 with a number of different mutation screening techniques.

The cohort of 37 index patients at risk for HNPCC screened in this study for LGRs has been established mainly on the basis of clinico-genetical criteria for HNPCC (AC-I and II, BG and RBG) and a lack of a germline mutation in the major MMR genes (MLH1 and MSH2) by conventional mutation screening techniques.

However, the logistics of such an application for this method are unknown, and a recent protocol for mutation screening using this technique indicates that throughput for sample screening (a maximum of 768 samples over three days) [ 44] is unlikely to be capable of matching that of the presented method (approximately 6000 duplicated samples in the same time period).