The Healthy Nevada Project shows that otherwise invisible disease risk can be revealed through DNA-based screening. Identifying these monogenic risks could be the first step toward a new population health-screening program.
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M.F.M. has received grants from Regeneron Pharmaceuticals (2014–2018) and personal fees from Invitae (scientific advisory board member 2016–2017) and 54gene (scientific advisory board member 2020).
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Murray, M.F., Giovanni, M.A. Bringing monogenic disease screening to the clinic. Nat Med 26, 1172–1174 (2020). https://doi.org/10.1038/s41591-020-1017-y
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DOI: https://doi.org/10.1038/s41591-020-1017-y
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Addressing the routine failure to clinically identify monogenic cases of common disease
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