Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer).
Explore the source record for details and available documents.
DNA Mutational Analysis↗
Biomedical subjects
C Mattocks
Publications and source records attributed to C Mattocks.
Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer).
Explore the source record for details and available documents.
Autoanalysis↗
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.
Explore the source record for details and available documents.
DNA Mutational Analysis↗
Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay.
Explore the source record for details and available documents.
Alternative Splicing↗
Comparative sequence analysis (CSA): a new sequence-based method for the identification and characterization of mutations in DNA.
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).
DNA Mutational Analysis↗