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Fig. 2 | Genome Medicine

Fig. 2

From: Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

Fig. 2

SNP analysis enabled AOH/ROH detection in addition to a copy-number neutral junction supporting underlying replication-based mechanism. a Agilent aCGH (V10.1) SNP array data (B-allele frequency, BAF) for chromosome 14 indicates a 42.2 Mb of AOH. b Top: pedigree structure of family HOU2583; Bottom: Illumina SNP array HumanOmniExpress-24 Beadchip B-allele frequency (BAF) plot of ~ 42 Mb telomeric segment spanning 14q (chr14:62584057-107287663) reveals a de novo complex genomic rearrangement (CGR) and ROH/AOH exclusively present in BAB7004 (please refer to Additional file 1: Figure S1 for SNP array results in other family members). BAF revealed that the TRP segment presents two distinct genotypes: a small one (92 kb) with unequal allele dosage, followed by a larger one with equal allele dosage (2.2 Mb). Unequal allele dosage TRP, light blue rectangle; equal allele dosage TRP, dark blue rectangle; flanking small DUP, red rectangle; AOH, orange rectangle. c Expected BAF genotypes for distinct copy-number states. d Color-matched schematic model of the 14q23.2q23.3 CGR formation in BAB7004. CGR presents at least three breakpoint junctions, i.e. Jct1, Jct2, Jct3, which are hypothesized to be generated by template switches during replication-based repair (see main text for discussion). Top: genomic coordinates of junctions inferred from multiple technical approaches. Bottom: representation of the SNP allele dosage in each segment involved in this CGR. A, B: SNP alleles. Genomic coordinates are in hg19

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