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We developed a closed-tube HRM mutation detection method specific for SLC26A4 that can be used in the clinical diagnostic setting.
A novel RNA-templated single-base mutation detection method based on T4 DNA ligase and reverse molecular beacon (rMB) has been developed and successfully applied to identification of single-base mutation in codon 273 of the p53 gene.
Accordingly, in Table 1 the studies are ranked for sensitivity of the mutation detection method.
To our knowledge, this notion is currently not considered in any published somatic mutation detection method.
A novel PCR-based mutation detection method has been developed by Transgenomic.
The proportions of ATM heterozygotes were determined using the denaturing gradient gel electrophoresis mutation detection method.
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This has potential to severely compromise clinical genomic utility, as indels are a major class of pathogenic variant, and are routinely and robustly detected by pre-NGS mutation detection methods, such as Sanger sequencing.
In addition, high sensibility mutation detection methods were also developed to perform a mutational screening study for the most frequent EGFR activating mutations.
Whole-exome sequencing and targeted NGS are the preferred methods for screening of PCC/PGL, both having precise mutation detection methods and low costs.
Translation of these mutations-disease biomarkers into clinical diagnostics yet requires simple, rapid, and cost-effective mutation detection methods that have high multiplexing ability and cross-platform compatibility [2].
Concerns with tumour heterogeneity underscore the importance of using highly sensitive mutation detection methods.
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