Automated analysis and reporting
User friendly software solutions are designed to perform the detection, measurement and interpretation of hybridization signals on combed DNA in a streamlined, informatics process. From the digital slide that represents the equivalent to thousands of microscopic fields of view, the software extracts the few hundred hybridization signals that are of interest and analyzes their data to generate easily interpretable results.
Genomic Vision’s software solutions are specifically developed for the analysis of Molecular Combing and GMC results. They enable the identification of known and undiscovered structural variations on combed DNA.
Automatic Signal detection
Detection of unexpected features
Possible manual review and adjustment of automatic measurements
Edition of the report displaying the results and calculations
Performance characteristics established on 73 patients for the “CombHeliX® FSHD software”
High Accuracy of the number of D4Z4 repeats: ± 1 D4Z4 repeat = 89%; ± 2 D4Z4 repeat = 98%
High sensitivity: All the 4qA alleles are detected and the presence of a contracted 4qA allele leads to a positive FSHD1 diagnosis (< 10 D4Z4 copies)
High specificity: the absence of a contracted 4qA allele results in a negative FSHD1diagnosis (> 10 D4Z4 copies)