Fig. 5 | Nature Communications

Fig. 5

From: Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data

Fig. 5

Mosaic DDD proband with an intermediate methylation profile. We evaluated DNA methylation at ~850,000 CpG sites across the genome in a subset of individuals from the DDD study using an Illumina EPIC methylation array. The blue cloud represents the distribution of published pathogenic KMT2D variants (n = 12), and the orange cloud non-pathogenic KMT2D variants (n = 15) from the published test set44. The points in red, orange, and blue represent methylation profiled non-mosaic KMT2D cases and negative controls from the DDD study; one DDD proband with a mosaic KMT2D stop-gain DNM (black triangle, VAF = 0.33) failed to classify as a case and sits between the two clusters

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