TECHNIQUES

A statistical framework for rare disease diagnosis

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References

    Original article

    1. Mohammadi, P. et al. Genetic regulatory variation in populations informs transcriptome analysis in rare disease. Science 366, 351–356 (2019)

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    Correspondence to Conor A. Bradley.

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    Bradley, C.A. A statistical framework for rare disease diagnosis. Nat Rev Genet (2019) doi:10.1038/s41576-019-0193-4

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