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The mutation screening methodology should be described in the report [e.g. sequencing, denaturing high-performance liquid chromatography (dHPLC), conformation-sensitive capillary electrophoresis (CSCE)] together with the sensitivity.
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We now present an expanded screening methodology to detect mutations covering the whole length of hGRα.
Although the methodology used for the mutation screening is appropriate and was shown to be sensitive and robust [23], a recent report exposed some limitations to the current methods, which included false negative calling due to human error in data and sample handling [12].
According to screening methodology, two main types of mutations are considered: amorphic and hypormorphic mutations.
Mutation screening for large-scale single mtDNA deletions is performed using a combined methodology involving quantitative fluorescent real-time PCR (QPCR) and long-range PCR.
Whereas their methodology is capable of detecting known mutations such as the Ashkenazi mutations by designing primers flanking those mutations, our methodology is an essentially different and more powerful methodology which is designed primarily as a screening methodology.
In this Closeup, Kristensen and Borresen-Dale discuss how identifying these mutations can define which therapy is most likely to succeed in eliminating the cancerous cells and how the methodology developed by Dias-Santagata et al and described in this issue, is an important step in making mutation screening a reality in the clinical practice worldwide.
Mutation screening was performed for known FHM-related genes.
In cases of SDHB mutation screening as early as 10 years of age is recommended.
This study emphasizes the significance of mutation screening for diagnosis, risk-assessment, and mutation-site specific management in LQTS patients.
There are several unique features in our screening methodology.
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