Figure 5
Amplicons used in this study. (A) SCN10A and PIK3CA amplicon sets phased in this study (13, 3.9, 4.1, and 2.7 kb from genomic DNA and 3.4 and 1.8 kb from cDNA, respectively). HG001 carries previously annotated Hap1 and Hap3 haplotypes. Red bars indicate the position of 7 clinically relevant heterozygous sites; orange bars indicate the position of 15 additional heterozygous sites. Alleles are colored if represent the alternate allele, i.e., different from the human reference. HCC202 cells carry two clinically relevant alleles (in red) and one non-clinically relevant variant (in orange). (B) 2% E-gels and 2% agarose (for 13 kb fragment) with PCR products as indicated. Non-specific DNA and primers were removed as indicated (e.g., compare DNA traces before and after MagBio cleanup, dashed squares; see Methods for technical details). We selected minimally amplified PCR products (see 3.4 kb PIK3CA 1:20 diluted cDNA as an example). DNA concentrations are indicated at the bottom.
