Figure 6 -. Targeted TELL-Seq with three 13 kb amplicons generated from peripheral blood-extracted genomic DNA from three known Hapl/Hap3 carrier individuals.

A. Previous work identified the three Hapl/Hap3 carrier individuals from whom 13 kb amplicons were generated and now have been processed in this study. We confirmed the Hapl/Hap3 genotype in all three individuals with Targeted TELL-Seq. However, this conclusion needed the three replicates for Individual #3. In Replicate #1, we observed an unphased and a flip error. We note that this library provided the lowest coverage, 54.6x (Individual #3). We generated a new library from the same amplicon (Replicate #2) and re-do the library amplification with leftover barcoded microbeads from Replicate #1 (Replicate #1.2). In both cases, we validated the expected Hapl/Hap3 genotype. We note that the sequencing depth was also higher for both replicates, 105.1x and 290.4x, respectively. Coverage indicated (x) on top of each genotype and number of correctly re-called and phased heterozygous positions in Hapl and Hap3 are also indicated. B. Graph shows average allele burden for all Hapl/Hap3 sites by library. In all cases, Hapl was amplified slightly more efficiently than Hap3, although it had no effect on genotyping and phasing.