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The genetic heterogeneity of FH requires low-cost, high-throughput, and rapid mutation detection technology to efficiently integrate genetic screening into clinical practice.
The large allelic and genetic heterogeneity of FH requires high-throughput, rapid, and affordable mutation detection technology to efficiently integrate molecular screening into clinical practice.
These experimental results demonstrate that this developed method offers high specificity and sensitivity for SNV detection, which might be a potential alternative as an effective mutation detection technology for the detection of β-thalassemia SNV and other gene-related diseases.
We investigated the factor V gene in selected pregnant women with APCR for novel SNPs using GMPD, a novel mutation detection technology [ 22].
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The number of genes and gene families associated with epilepsy is rapidly increasing and this increase is likely to escalate over the coming years with advances in mutation detection technologies.
We performed, in a clinical setting, a systematic validation of dideoxy 'Sanger' sequencing and pyrosequencing against massively parallel sequencing as one of the most sensitive mutation detection technologies available.
The present expression system should facilitate further development of CEL I-based mutation detection technologies.
The high genealogical resolution of this system, established by recent advances in mutation-detection technology, and the phylogeographic method have together proven highly informative in tracing patterns of human prehistoric colonization and migrations.
Hence HRM can be used to combat unknown mutation-detection technologies.
These results indicate cross-platform concordance of the Ion Proton sequencing and mutation detection with Illumina sequencing technology used in the MiSeq sequencer.
Thus even a wide range of mutation detection methodologies exist, DNA sequencing technology has been considered as the gold standard.
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