The platform currently supports autism spectrum disorder (CHD8/16p11.2 del), CHARGE syndrome (CHD7), Down syndrome (21 trisomy), Dup7 syndrome (7q11.23 dup), Kabuki syndrome (KMT2D), Nicolaides–Baraitser syndrome (SMARCA2), Sotos syndrome (NSD1), Weaver syndrome (EZH2), Williams–Beuren syndrome (7q11.23 del) (Table S2). The gene discussed is CHD7; the disease is CHARGE syndrome.