Detection and validation of heterozygous inversions. (A) Composite file for the Chromosome 14 iso-q subpopulation from batch2, built using the GGSC Nleu3.0/nomLeu3 reference genome. Orange and blue bins represent Watson (W) and Crick (C) strand inheritance, respectively, and pink ones represent centromeres. Chromosome 14 exhibits increased read depth and a clear p/q switch pattern, consistent with the presence of an isochromosome of the q-arm. Red squares highlight two of the detected heterozygous inversions. (B) Experimental validation by interphase FISH using locus-specific BAC probes (Supplemental Table S2). The schematic on the left shows the probe design and expected signal patterns for the directly oriented chromosomes. On the right, representative FISH images from nuclei in preparations prep2A (Exp3) and prep2B (Exp4) confirm the presence of the predicted heterozygous inversions (dir/inv configuration).
