#SeminarIRSJD · Epigenetic Genotyping (EpiGe): A novel approach for single cytosine methyl-genotyping and its application in Pediatric Oncology"



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EpiGe is a novel approach for the analysis of the methylation status of unique CpG sites based on real-time PCR allelic discrimination technology. We have developed and tested this approach in pediatric oncology taking Medulloblastoma, the most frequent intracranial solid malignant tumor in childhood, as a paradigmatic model. Taking advantage of specific characteristics that compose cytosines selected as classifiers in pediatric oncology, we have developed subgroup-specific fluorogenic probes that permit to discriminate methylated and unmethylated single cytosine residues. For the interpretation of the EpiGe qPCR results, we have designed an interactive Web Application named EpiGe-App. Once the bisulfite allele-specific probes are detected using real-time polymerase chain reaction (PCR)-based assays, the EpiGe-App enables the automatic analysis of genotype calls and assigns each sample to a category (subgroup).

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