NGS Cloud is a clinical decision support system that automatically presents a list of candidate variants in the light of submitted phenotypic data, with minimal or no need for filtering to reach a clinical diagnosis. The most fundamental component of this system is the GENIUS algorithm, which performs gene-genotype-phenotype matching and variant prioritisation.
GENIUS (GENe Interactions Under Scope)
Approximately 70,000 variants in whole-exome sequencing (WES) and 5,000,000 variants are called in whole-genome sequencing (WGS) (1). These variants are then filtered and excluded according to several different parameters, such as
Here, the GENIUS algorithm has been developed to automatically apply all known relevant criteria and enables you to reach the disease-causing variant faster and easier.
Inputs of the GENIUS algorithm:
In a recent validation study, GENIUS has presented six variants during a WES analysis on average (Figure 1) (2).
Figure 1. Automatically listed candidate variant numbers
The GENIUS algorithm listed clinically relevant variants in 94.4% of the cases. These variants were either the first or among the top three in 44.1% and 73.5% of the samples, respectively2. The GENIUS algorithm enables a straightforward analysis through tens of thousands, millions of genetic variants and identify genetic changes that cause disease, usually one or two. Most importantly, it becomes more accurate by reducing human-induced errors.