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In mutation scanning methodologies such as SSCP and DHPLC, samples demonstrating variant profiles are selected for confirmatory analysis with mutation identifying methods such as dideoxy sequencing.
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This can be illustrated by the following two qualitative validations of a methodology for mutation scanning: Validation using 30 different mutations.
High resolution melting (HRM) is a new methodology for mutation scanning in which the mutation scanning is carried out in the same tube or well in which the sequence is amplified (reviewed in [ 1]).
NGS is now developing as the diagnostic methodology of choice across a range of applications, including mutation scanning in targeted gene panels and WES for congenital disorders, as well as high depth analysis for tumour profiling.
We previously validated mutation scanning for BRCA1 and 2 using high-resolution melting curve analysis (HRMCA).
High-resolution melting allows mutation scanning by detecting all heterozygous changes.
Discovering the genetic causes of common diseases may require pan-genomic mutation scanning of all genes in a million people.
These analytical methods have been applied previously to mutation scanning [34], [35].
We used mutation scanning methods.
Scanning methodologies such as SSCP, gradient gel electrophoresis and denaturing high performance liquid chromatography (DHPLC) are advantageous because they significantly reduce the amount of sequencing that ultimately needs to be performed [ 31- 36], streamlining the mutation detection process and making it more cost effective.
However, mutation scanning has the advantage of being rapid.
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