Sequencing the entire genome involves reading the over 3 billion letters that make up the genome of a human being. This process produces a vast amount of information, whose proper analysis requires an in-depth understanding of a variety of related bioinformatics, ethical, legal, and IT issues involved. Our expertise and the use of B_Platform allows us to speedily produce the required results, ready for their use in diagnostics. Currently, whole genome sequencing is used to search for mutations outside of the codifying regions, thus covering genes and variants that would otherwise not be covered by WES studies.
After receiving the case from a patient or a healthcare professional, our team independently evaluates the feasibility of the analysis requested.
After accepting the case, Bitgenia's team makes sure all parties are appropriately informed of the procedures, obtaining the respective consent forms and designating a lab where healthcare professionals will take the sample. DATA STORAGE
Once received from the lab, one of Bitgenia's trusted partners sequences the sample using Next Generation Sequencing (NGS) technology.
The genetic sequence data supplied by our partner is put through B_Platform, Bitgenia´s proprietary genomics analytic tool, to determine the impact potential of genomic variants for the patient.
Genomic data is aggregated with previous cases into our database, allowing for relevant statistical analysis, as well as a strict quality control over procedures and results.
Our specialized team generates a report based on the processed information obtained using B_Platform. The reports are then provided to the healthcare professional to be used in the diagnosis process.