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). Here, CHD7 is linked to Weaver syndrome.