Fig. 2: De novo variants. | Nature Communications

Fig. 2: De novo variants.

From: Phenome-wide association study of loci harboring de novo tandem repeat mutations in UK Biobank exomes

Fig. 2

Chromosomal localization of de novo TR mutations observed in at least two trios. Each data point is a single TR mutation color coded to designate the number of UKB European ancestry trios in which that mutation was observed. Each data point is annotated with the gene containing the TR locus. Loci are positioned relative to the hg38 reference genome. The bottom right inset shows the slight bias in repeat expansions relative to repeat contractions per trio (N = 39). The diagonal dashed line indicates a 1:1 ratio of TR expansions:contractions.

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