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A statistical framework for rare disease diagnosis

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References

Original article

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

    Article  CAS  Google Scholar 

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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 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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