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Hum Mutat. 2000 Nov;16(5):437-43.

Comparative sequence analysis (CSA): a new sequence-based method for the identification and characterization of mutations in DNA.

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Molecular Genetics Laboratory, Addenbrooke's Hospital, Cambridge, UK.


Direct sequencing analysis is largely used to confirm and characterize mutations previously detected by more rapid tests. We have developed a method-Comparative Sequence Analysis (CSA)-that simplifies the analysis of sequencing data facilitating its use as a first screen for mutation detection. Sequence data were split into their component electrophoretograms and the use of a size standard enabled equivalent traces from different individuals to be overlaid. This allowed simple and rapid visual analysis of the results. Using this technique in a blind study, we tested 576 samples for mutations in the Von Hippel-Lindau tumor suppressor gene, VHL. We were able to identify and characterize all 78 known mutations present within the sample set (100% sensitivity and specificity).

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