Figure 1: Variability in breadth of coverage for the American College of Medical Genetics and Genomics (ACMG) 56 genes and 63 pharmacogenes among the nine individuals.
From: Measuring coverage and accuracy of whole-exome sequencing in clinical context
The percentages of coding sequence bases covered with per-site read depth ≥10 × are shown for each of (a) ACMG 56 genes and (b) 63 genes from the Pharmacogenomics Knowledge Base Very Important Pharmacogenes (PGx-VIPs). Of 63 pharmacogenes, the 12 clinically actionable genes per the Clinical Pharmacogenetics Implementation Consortium guidelines are highlighted with blue background in their symbols. Each row represents a gene, and columns are grouped by the nine individuals across the three vendors. Green squares represent finished genes (i.e., 100% covered at ≥10 ×), and yellow (95–99%) and red (<95%) squares represent lower breadths of coverage at ≥10 ×. Genes with significantly different breadths of coverage between V1 and V2 are marked with * and † (Wilcoxon signed-rank tests, Bonferroni corrected p values <0.05). * indicates better breadth of coverage in V1 and † shows better ones in V2.
