You can now easily import predefined panels (sge files) made by us and validated by Roche, at the moment, for the following SeqCap EZ panels:
- Channelopathy & Arrhythmias
These SeqCap EZ panels have been defined using hg38 as a reference and depending on the type of mutations you are looking for (somatic or germline), you can download the corresponding file from here. These panels have also been activated for copy number variant (CNV) analysis so each time you will use them, this information will also be available for selected genes.
As Roche will continue to develop new panels for NGS analysis, JSI medical systems will provide the corresponding sge files. However, if you are using a Roche customized panel, please feel free to contact us if you want to receive such a file.