Genostore Module - Genetic Data

The GenoStore module is specifically dedicated to the storage and processing of genetic data. It stores the patient's genotype by providing a description of the specific variants associated with the subject's genetic background to study and select subjects with particular genetic variants. The platform includes genetic variants selected from an Italian NMD dataset and then generated by the MotorPlex multigene panel. The deleterious and common variants, obtained from at least one of the three software tools used as part of Ingenuity Variant Analysis (https://www.qiagenbioinformatics.com/products/ingenuity-variant-analysis/), were identified for a subgroup of patients with NMD, grouped based on genetic and muscle pathway characteristics.

The Genostore module also reports on how many of the subjects analyzed the variations were detected: the more subjects they are detected on, the less important the variation is (it could be considered as background noise or in any case a variation that is not decisive for the purposes of the pathology). The module then creates a tabular display of the identified variants for each sample (patient).

For each variant it displays the samples on which it was identified. If the sample is a patient in the platform registry, the display of genetic data is enriched with the patient's clinical data.

Each time data is imported, that import is recorded as an event in the timeline for each patient to which the data relates.