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HUMAN GENETICS

Sizing up whole-genome sequencing studies of common diseases

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The triplet code underpins analyses of rare and de novo mutations in exome sequencing data, but analysis of the noncoding genome is much more challenging. A new analytical framework for common, complex diseases highlights the need for very large samples to overcome the unavoidable multiple-testing burden and hence provides preemptive warnings against underpowered studies.

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Fig. 1: CWAS in the context of other experimental designs for investigating genetic variation in ASD.

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Authors and Affiliations

  1. Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia

    Naomi R. Wray & Jacob Gratten

  2. Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia

    Naomi R. Wray

Authors
  1. Naomi R. Wray
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  2. Jacob Gratten
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Correspondence to Naomi R. Wray or Jacob Gratten.

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The authors declare no competing interests.

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Wray, N.R., Gratten, J. Sizing up whole-genome sequencing studies of common diseases. Nat Genet 50, 635–637 (2018). https://doi.org/10.1038/s41588-018-0113-0

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