Rare copy-number variants (rCNVs) — genomic deletions or duplications that occur at a frequency of less than 1% — have been linked to both Mendelian and complex human disorders. However, the challenges of studying this variant type, including the need for huge sample sizes, means that the causal genes and underlying disease mechanisms remain unclear for most rCNVs. Now, new insight is provided by a study in Cell that characterizes genome-wide dosage sensitivity for 54 human disorders.

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