Fig. 4

ABCA7 VNTR sequence reconstruction based on squiggle clusters. Alignments are shown with individual PromethION sequencing reads (narrow segments) and a consensus (broad segments), as annotated in panels a and b. Each rectangle corresponds to a TR unit. Colors correspond to the TR unit cluster as assigned in Fig. 3. a Negative reads originating from the two NA19240 alleles. For both alleles of NA19240, two reads with deviating TR length were removed for clearer visualization. b Negative reads corresponding to both alleles of Subject02, for whom a single VNTR length is observed in Southern blotting. c Positive reads corresponding to the expanded alleles of Subject04, Subject05, and Subject10