NGS panel for the detection of SNVs, InDels and CNVs in 569 genes known to be associated with the most common rare and inherited conditions. The panel covers the coding regions of the included genes with an overlap of 5 bp into the intronic regions.
List of included genes on demand.
Library preparation is based on hybridization capture technology.
The kit is validated for Illumina NGS sequencers.
The solution also includes the unique SOPHiA DDM platform for secondary and tertiary analysis of the resulting NGS data, which enables:
- Analysis based on the GRCh38/hg38 genome
- Dual Variant Pre-classification according to ACMG and the SOPHiA algorithm
- Creation of virtual panels
- Customizable variant filtering and sorting
- Trio Familial Variant Analysis
- Direct connection to databases, tools and in silico predictors
