Fig. 3: Loss-of-function variants in ASXL1 are associated with a distinct DNAm signature. | European Journal of Human Genetics

Fig. 3: Loss-of-function variants in ASXL1 are associated with a distinct DNAm signature.

From: DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

Fig. 3: Loss-of-function variants in ASXL1 are associated with a distinct DNAm signature.

A Principal component analysis (PCA) and (B) heatmap showing clustering of the BOS discovery cohort (n = 8; yellow) and control discovery cohort (n = 26; grey) using DNAm values at the 763 CpG sites identified in the BOS specific DNAm signature. The heatmap color gradient indicates the normalized DNAm value ranging from −2.0 (blue) to 2.0 (yellow). Euclidean distance metric is used in the heatmap clustering dendrograms.

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