NGS panel for clinical exome sequencing that allows the detection of SNVs, InDels and CNVs in 5500 clinically relevant genes. The panel covers the coding regions of the included genes with an overlap of 5 bp into intronic regions, the entire mitochondrial genome and an additional 200 significant variants in non-coding 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
