Figure 4.
Pseudodiploid human annotation examples. (A) UCSC Assembly Hub (Nguyen et al. 2014) showing TRIB3 deletion in CHM1. Analysis of genes found in one genome and not the other led to the discovery of a novel structural variant specific to CHM1, which disables the gene TRIB3. Spanning reads were found in both PacBio and Illumina whole-genome sequencing that validate the deletion. (B) An example insertion near an exon of TAOK3 seen in one haplotype of NA12878. It was not possible to determine if this insertion affects transcription of this gene.
