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Standard capillary ("Sanger") DNA sequencing was used to evaluate false positive mutation detection rates with respect to all detected indels (21 cases in the five sequenced R1 samples) and all base substitutions detected in R1-10-2 R1-10-2 R1-10-2 cands).
(1) High-throughput techniques are able to detect a wider spectrum of mutations in ABCA4 than before, achieving higher mutation detection rates.
CDH1/E-cadherin mutation detection rates vary between 12% and 83%.
Future studies will focus on determining the role of merlin in tumorigenesis, improving mutation detection rates, and designing clinical trials for affected individuals.
Assessing various mixtures of DNA from mutant KRAS cell lines and DNA from a wild-type KRAS cell line, we found that mutation detection rates for Pyrosequencing were superior to dideoxy sequencing.
These mutation detection rates are comparable to previously reported populations.
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The diagnostic performance in this study was evaluated by calculating the mutation detection rate as a percentage of mutations detected for the cohort of 12 patients with 24 known mutations, and by calculating the diagnostic yield as the percentage of patients for which a molecular diagnosis was obtained (for details, see Results).
Analysis of the ability of this microarray to detect known gene mutations has shown a 97% mutation detection rate for base substitutions.
The mutation detection rate for patients who fulfilled the Ghent criteria reached 71%.
In the test group, we identified mutations in 71 of 74 alleles, with a mutation detection rate of 95.9%.
LNA-PCR sequencing confirmed all 51 PIK3CA mutations; however, the mutation detection rate by standard Sanger sequencing was only 69% (35 of 51).
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