New 3D Genome Mapping Tool Reveals Hidden Complexity in DNA (IMAGE)
Caption
This image depicts the detection of structural variants (SVs) at low sequencing coverage in both unique and repetitive regions by genomic proximity mapping (GPM), compared with other SV-calling methods. Schematic illustrating Hi-C contact maps reveals rearrangements even at low depth. Two genomic loci are shown in a unique (A) and a repetitive (B) context, and corresponding Hi-C contact matrices (bin size, 50 kb) display enriched off-diagonal signals (black arrows) at junctions generated by a simple inversion event in both contexts, whereas short-read paired-end alignments are too sparse to call breakpoints reliably. WGS, whole-genome sequencing.
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The Journal of Molecular Diagnostics / Fang et al.
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