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Breaking the silence

Scientists had long assumed that any genetic mutation that does not alter a protein sequence should have no impact on human health. But recent research has shown that such synonymous DNA changes can trigger disease in a number of ways. Alla Katsnelson talks to scientists and biotech companies who are speaking up about 'silent' mutations.

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Katsnelson, A. Breaking the silence. Nat Med 17, 1536–1538 (2011). https://doi.org/10.1038/nm1211-1536

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