Finally, enriched GSA with hotspot mutations enable the screening for other immune-mediated diseases such as Blau syndrome (NOD2), mastocytosis (KIT), and as cancer driver mutations in proto-oncogenes such as v-raf murine sarcoma viral oncogene homolog B1 (BRAF) or tumor suppressor genes such as tumor protein 53 (TP53). Here, NOD2 is linked to Down syndrome.