Sentence examples for gene mutation screening from inspiring English sources

KS participated in TP53 gene mutation screening.

PF-L participated in TP53 gene mutation screening.

HRM is a rapid, sensitive and inexpensive screening technology that is likely to be widely adopted in diagnostic laboratories to facilitate whole gene mutation screening.

One hundred sporadic RP patients recruited in the Department of Ophthalmology, Peking University Third Hospital were used for RPPF31 gene mutation screening.

The cost-effectiveness of a dysferlin gene mutation screening using DHPLC approaches has been reported in large groups of patients with the identification of many mutations, therefore validating the efficacy of genomic mutational screening for routine diagnosis.

Genomic DNA for WFS1 gene mutation screening was obtained after written informed consent.

This phase II study was prospectively designed to evaluate the effect of gefitinib in NSCLC patients with EGFR gene mutations screened by PNA-LNA PCR clamp.

It is important in BRCA genes mutations screening to note that the deletion of exons 5 14 (the most prevalent rearrangement in Czech) and all of the first 17 exons of BRCA1 gene is specific to the Czech BC patients and is also considered as founder mutations [ 81].

Due to the development of more advanced mutation-detection methods enabling the performance of a complete gene mutation screen, there has been a shift in more recent years to discuss the option of PM only with identified mutation carriers.

For example, systematic gene mutation screens in yeast and mice suggest that most of the genes in those organisms are non-lethal and associated with a discernible phenotype when disrupted (Ayadi et al. 2012; Winzeler et al. 1999; Hillenmeyer et al. 2008).

As both are large multi-exon genes, mutation screening of BRCA1/ BRCA2 is technically challenging, because each gene harbors more than 1,000 different disease-associated mutations, the vast majority of which are individually rare.