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Mohammadi, P. et al. Genetic regulatory variation in populations informs transcriptome analysis in rare disease. Science 366, 351–356 (2019)
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Bradley, C.A. A statistical framework for rare disease diagnosis. Nat Rev Genet 21, 2–3 (2020). https://doi.org/10.1038/s41576-019-0193-4
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DOI: https://doi.org/10.1038/s41576-019-0193-4
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