Hence, the original diagnosis was often based mainly on mutation detection.
The technique is based on the mutation detection approach used in TILLING (Targeting Induced Local Lesions in Genomes) [ 7, 8].
These molecular approaches were based on the mutation detection rate of the high-throughput ABCR400 microarray, which we previously tested 11 and confirmed in Spanish arSTGD patients (present study).
It is particularly useful for detection of resistance mechanisms based on mutations in ribosomal RNA.
Based on the adenoma carcinoma sequence, much research has focused on mutation detection; sequential genetic alterations have been illustrated as a linear process (Fearon and Vogelstein, 1990; Kinzler and Vogelstein, 1996).
These ISR markers can be assayed on mutation detection enhancement (MDE) gel for detection of polymorphism.
Classical TILLING processes, based on enzymatic detection of mutations in heteroduplex PCR amplicons, are slow and labor intensive.
Currently, anomaly detection methods include anomaly detection based on classification, anomaly detection based on the nearest neighbor method, anomaly detection based on clustering, statistical anomaly detection, anomaly detection based on information theory, spectral theory anomaly detection, and so on [1].
Conversely, CGC 1 – with less focus on diagnosis of cardiomyopathies – reported that 'the diagnosis of Fabry disease' was confirmed in patient 9, based on the detection of another mutation in GLA.
In addition to rapid identification, sequencing based mutation detection also offers simultaneous mapping of these mutations.
