Figure 7.18.6.

Sample of a summary report generated from our data analysis pipeline. All positions requiring a confirmatory sequencing method are listed in the Follow Up Positions section. For each position, the gene, exon, and wild-type base are indicated. In the Call column, triplicate calls are shown, as well as minor allele tiling calls due to the presence of a nearby single-nucleotide polymorphism (SNP). When tiled, genotyping calls are noted next to the relevant base. The results of confirmatory Sanger sequencing are noted in the final column (Seq Confirmation). Non-wild-type base calls that are not followed up are listed in the subsequent sections including benign SNPs, as well as calls filtered out due to identification during test validation as a site of a common false positive or no-call.