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Fig. 5 | Genome Medicine

Fig. 5

From: Medical implications of technical accuracy in genome sequencing

Fig. 5

ClinVar variants within ACMG genes in the ExAC database. Depth of coverage in log2 space versus the number of samples that were unable to be called for that variant. The size of the points is relative to quality scores from GATK during joint calling. Orange indicates that the variant is in a high-confidence NA12878 region while blue is considered to be in low confidence. Triangles highlight variants that failed VQSR filtering

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