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The study of structural variation — large-scale changes in DNA that can, in some cases, refashion entire chromosomes — in the genomic era has lagged behind that of sequence variation. But there’s a growing appreciation of how important structural variants are to human biology and disease. What makes these variants more challenging to study, and what is being done to overcome those challenges?

Steve McCarroll, an institute member at the ӳý, director of genetics for the Stanley Center for Psychiatric Genetics, and an associate professor at Harvard Medical School, takes us beyond single base-pair deletions and misspellings to explore variations in the human genome on a structural level. With the analytical tools available today to examine huge lengths of DNA, McCarroll and others are linking these structural differences to human health and our risk of developing diseases such as schizophrenia and cancer.