Innovative solutions
Method of Analysis
R&I Genetics uses next-generation sequencing (NGS) to analyse the DNA of patients. Alterations in the DNA sequence (called variants) can be harmful and cause serious medical conditions.
Bioinformatics process
Analysing data from NGS sequencing is a complex process that requires computer and human resources, such as processing servers and specialised personnel, as well as advanced software.
Interpretation
The final step in the analysis process is the interpretation of data and classification of variants. The interpretation strategy of R&I Genetics consists of exome sequencing and the use of internally developed gene panels (virtual gene sets) aimed at searching for variants in genes that may be the cause of a particular genetic disease, depending on the clinical phenotype.
Report
The report, which is delivered exclusively to the requesting specialist physician, contains all the information that enables the clinician to interpret and evaluate the genetic data.
The results related to the clinical question are reported in the 'Primary outcome' section, followed by a technical commentary, analysis of the most significant literature and classification of variants according to ACMG.