Figure 7
Targeted TELL-Seq with three 13 kb amplicons generated from peripheral blood-extracted genomic DNA from three known Hap1/Hap3 SCN10A carrier individuals. (A) Previous work identified the three Hap1/Hap3 carrier individuals from whom 13 kb amplicons were generated and now have been processed in this study. We confirmed the Hap1/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 Hap1/Hap3 genotype. We note that the sequencing depth was also higher for both replicates, 105.1 × and 290.4 ×, respectively. Coverage indicated (x) on top of each genotype and number of correctly re-called and phased heterozygous positions in Hap1 and Hap3 are also indicated. (B) Graph shows average allele burden for all Hap1/Hap3 sites by library. In all cases, Hap1 was amplified slightly more efficiently than Hap3, although it had no effect on genotyping and phasing.
