Fig. 2.

Examples of observed RPVs in their phylogenetic contexts.

A phylogenetic tree is shown to the left, as in Fig. 1. a) Allele structures for DYS635 in all 100 samples. Repeat unit sequences are shown above, and boxes below contain the number of repeat units in each block, coloured by heat-map from blue (shortest) to red (longest). Invariant blocks are not coloured. SNPs and indels are highlighted by green and orange boxes respectively. Bars on the right mark features specifically mentioned in the text, and are coloured black for monophyletic, or grey for polyphyletic examples. Below is represented the reference sequence allele structure (‘ref.’) in GRCh38 chrY. To fully appreciate the colours of the heat-map, please, consult the online version of the figure. b) Allele structures for DYS389II; c) Allele structures for DYS481.