FIGURE 1.

Structure of a gencDNA. (A) The APP genomic locus and the exons within a full-length cDNA. (B) Two types of gencDNAs were identified in both RNA and DNA: full-length brain-specific isoforms (APP-751 and APP-695) and truncated sequences with intra-exonic junctions and microhomology domains (R3/16 and R6/18). Known pathogenic SNVs were also identified in some variants (in-frame examples include Australian, London, French, Indiana, and A673V; shown in red). Figure modified from Lee et al. (2018).