Several methods can be exploited for DNA sequencing. Sanger sequencing is a method of DNA sequencing based on the selective incorporation of chain-terminating dideoxynucleotides, named primers, by DNA polymerase during in vitro DNA replication. Differently, Next Generation Sequencing (NGS) enables rapid sequencing of large stretches of DNA base pairs spanning entire genomes, with some instruments capable of producing hundreds of gigabases of data in a single sequencing run. The Sanger Sequencing module is aimed to track the experiments performed with both technologies. In particular, for each sample included in an experiment, the gene and the mutation identified by external analyses are saved using the genomic annotation facilities provided by the LAS. Additional resources such as the electropherograms produced by the instruments can also be included to enrich the description of the experiment and reevaluate it in the future. These documents and the NGS raw data are managed by the repository module described in the next section.
The user plans a set of aliquots for experiment using the Sanger Sequening technology from the Biobank module. During the experiment planning the user defines also a title and description (optional). Before performing the molecular experiment, the user should validate the scheduled aliquots and confirm the used quantity for each aliquot. The user should insert the barcode of each aliquot to perform the validation procedure.
All experiments for which the samples have been validated are visualized. By selecting an experiment, the user can upload a file with the Sanger Sequencing results. A table with the measures is shown, according to the contents of the file. In addition to the measures, the user may also associate a set of files with an experiment.