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Khera, A. V. et al. Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction. Circulation 139, 1593-1602 (2019).
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Collins, R. L. et al. A structural variation reference for medical and population genetics. Nature 581, 444-451 (2020).