Class switch recombination (CSR) is a process contributing to antibody diversity and generating characteristic genomic junctions that reflect DNA double-strand break repair efficiency. Here authors present a platform to profile the repertoire of CSR junction patterns; long-read-sequenced PCR products from blood-derived lymphocytes are analysed by a dedicated bioinformatic pipeline to accurately detect immunodeficiencies and DNA repair defects.
- Clara Vázquez García
- Benedikt Obermayer
- Kathrin de la Rosa