Sentence examples for mutation screenings in from inspiring English sources

Recognition of constitutional mutation carriers among pheochromocytoma and paraganglioma patients is of clinical importance but in principle requires extensive mutation screenings in a large group of patients – as several genes are involved, and hereditary predisposition is often present in spite of a negative family history.

The basic problem to translate findings from mutation screenings into a more accessible sequence database and evaluate them in a quick yet comprehensive manner, is not restricted to screenings employing Ecotilling.

In this study, mutation screenings and methylation quantifications in Series B were carried out in matching normal samples from a subset of cases (Supplementary Table S1, see section on supplementary data given at the end of this article).

These data indicate that dosage analysis should be considered in all mutation screenings.

Common mutations and hot spots are rare; therefore, there is a need for large and time-consuming mutation screenings to achieve a molecular diagnosis of RP in patients.

We further propose the use of P16 methylation assessment as an additive tool in identification of patients for SDHB mutation screenings.

Thus, this method is efficient and might be used for mutation pre-screening in ADPKD genes.

In our mutation-screening flowchart, the DNA analysis was first carried out by a DHPLC of all exons and flanking introns.

Thus, for the missense substitutions that were observed in our mutation-screening study and subjected to functional assays, there is a qualitative trend toward agreement between the Align-GVGD classification and the functional assay result, consistent with the trend in ORs that we observed across the Align-GVGD-defined ordered series of missense substitution grades.

For instance, actually using your mutation-screening device to analyze blood samples in a hospital lab constitutes a "public use".

Previously, we adapted an in silico assessment of missense substitutions used for analysis of unclassified missense substitutions in BRCA1 and BRCA2 to the problem of assessing candidate genes using rare missense substitution data observed in case-control mutation-screening studies.