NGS for the diagnosis of autoinflammatory diseases: the experience of Montpellier

Patients and methods 34 patients were selected on clinical grounds by members of the French reference center for autoinflammatory diseases (CeReMAI). 9 of them were considered positive control samples as they had previously known variants (by Sanger sequencing) and were run in parallel for methodological validation. A custom panel of 108kb was designed to… CONTINUE READING