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Predicting pathogenicity from non-coding mutations

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A machine-learning model identifies cell-type-specific predictors of the pathogenic effects of promoter and enhancer mutations in the human genome.

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Fig. 1: Non-coding regulatory regions that mediate transcription.

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Author information

Authors and Affiliations

  1. Intelligent Systems Laboratory, University of Bristol, Bristol, UK

    Colin Campbell

  2. MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK

    Amy Francis & Tom R. Gaunt

Authors
  1. Colin Campbell
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  2. Amy Francis
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  3. Tom R. Gaunt
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Corresponding author

Correspondence to Colin Campbell.

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The authors declare no competing interests.

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Campbell, C., Francis, A. & Gaunt, T.R. Predicting pathogenicity from non-coding mutations. Nat. Biomed. Eng 7, 709–710 (2023). https://doi.org/10.1038/s41551-022-00996-x

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