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Plain-language medical vocabulary for precision diagnosis

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Fig. 1: HPO pipeline.


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Funding was provided by the US National Institutes of Health (NIH) Monarch Initiative (OD 5R24OD011883; N.A.V., L.C., T.G., C.M., J.A.M., P.N.R., K.S., S.K., M.A.H.) and Patient-Centered Outcomes Research Institute (PCORI) contract number ME-1511-33184 (N.A.V., I.H., C.B., K.S., J.A.M., M.A.H.).

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M.A.H. conceived the work. N.A.V., E.D.F., M.E.E., L.C., K.R., S.K. and P.N.R. added layperson synonyms to the Human Phenotype Ontology. K.S. and S.K. performed the analysis. J.A.M. designed the figure. N.A.V., E.D.F., M.E.E., L.C., M.M., C.C., H.J.S.D., J.L., M.G.D.R., M.S., C.F.B., A.R., S.F.T., A.K., B.S., G.B., E.J., P.G., M.B., J.C., T.G., D.A., A.C.R., A.P.H., C.M., I.H., K.R., C.B., K.S., J.A.M., P.N.R., S.K. and M.A.H. wrote the manuscript.

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Correspondence to Melissa A. Haendel.

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Vasilevsky, N.A., Foster, E.D., Engelstad, M.E. et al. Plain-language medical vocabulary for precision diagnosis. Nat Genet 50, 474–476 (2018).

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