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 capture the genomic regions of interest using the Illumina Nextera Rapid Capture enrichment DNA preparation kit. MicroV2 chip were then loaded with 12 samples on a MiSeq equipment for multiparallel sequencing. Annotation and filtering were performed with Seqnext software (JSI), and annotation was performed with Alamut Visual (Interactive Biosoftware).