The Whole Exome Solution (WES) of Sophia Genetics covers the coding regions (± 5 bp of the intron regions) of more than 19,000 RefSeq genes, allowing a complete study of the patient’s genes.
The kit uses NGS capture technology and is intended for use on Illumina platforms. The results are interpreted in the SOPHiA DDM platform, designed for the analysis and protection of NGS clinical data in routine diagnosis.
It also allows the detection of SNV and Indels, and guarantees a high percentage of readings in the target and uniformity of coverage, even in regions rich in GC.
SOPHiA analyzes complex NGS genomic data through the detection, annotation and pre-classification of genomic variants to help clinicians better diagnose their patients.
In addition to the Whole Exome Solution, we have other more specific panels for clinical diagnosis in areas such as metabolism, oncology, genetics or cardiology.
