Figure 4.

Coverage drops in TR in RFC1 and ABCA7 genes, associated with CANVAS and AD. (A) The genotyped TR alleles and relative motif characterization in a parent–child duo using only HiFi data, and HiFi + non-HiFi data. Long-read data from the brain of the parent were also available. Adding non-HiFi data rescued the missing allele in the child. (B) The comparison between experimentally validated alleles in the TR intronic of ABCA7 gene, and genotyped alleles based on HiFi data alone, and HiFi + non-HiFi. Experimental validation of TR alleles was performed with Southern blot assay, and was available for nine individuals for which long-read data were also available. When adding non-HiFi data, we could recover the expanded alleles in the child that were missed by HiFi data alone.