Fig. 4

Genetic artifacts that interact with sex and probe cross-reactivity (cross-hybridizing at loci not initially targeted by the design). A Allosomal probe associated to the SNP rs56157110 causing probe failure (SNP=PF), additionally influenced by X-inactivation; U:M denotes that one epiallele is methylated randomly per cell. Males and females are highlighted in blue and pink, respectively. B Allosomal probe associated to the SNP rs7886395 that disguises as U (SNP=U), additionally interacting with X-hypermethylation. C Autosomal probe, cross-reactive (CR) towards ChrY. D Autosomal probe, CR towards ChrX; parentheses denote the less likely scenario. E Allosomal probe CR to both chrX/Y, additionally influenced by X-inactivation. F Allosomal probe, CR to ChrX/Y, additionally influenced by X-inactivation escape. G Autosomal probe associated to the SNP rs842416 that disguises U, additionally CR towards ChrY. H Allosomal probe, CR to ChrX/Y, associated to an undetermined variant that causes probe failure at ChrX, additionally influenced by X-inactivation escape. I Peripheral blood mononuclear cells (PBMC) and buccal cells tissue-specific genetic artifacts produced by SNPs rs28780111 and rs12720020, and on first and second row, respectively. First and second column correspond to methylation in PBMC and Buccal cells. Confusion matrices represent cluster correspondence between technical replicates within each tissue. On the third column, PBMC and buccal patterns are overlayed with arrows that connect matched PBMC-Buccal samples available on both tissues