A closeup shot of a laboratory worker arranging pipette tips in a blue container for a coronavirus testing
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Chromosome rearrangements add a powerful and often overlooked layer of complexity to genetic analysis. For decades, our first pass at understanding disease has focused on mutations within exomes—the protein‑coding regions of DNA that alter amino acid sequences or protein abundance. More recently, the discovery of vast numbers of non‑coding RNAs, many of which regulate gene expression or encode small peptides, has further expanded this landscape.
Now, new high‑resolution studies reveal a third dimension of complexity: large‑ and small‑scale chromosome rearrangements that can flip, duplicate or relocate genes, profoundly changing…