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Disease genetics

Searching large and small

Nature Reviews Genetics volume 15, pages 706–707 (2014)Cite this article

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Coe et al. constructed a CNV morbidity map from ~20,000 controls and ~29,000 cases of intellectual disability, developmental delay and/or autism spectrum disorders, from which they identified 70 significant CNVs. Notably, the large sample size allowed them to take into account the background level of CNVs and thus identify critical regions that map outside recurrent CNVs mediated by segmental duplications.

They then integrated the CNV data with recently published exome sequencing data and used a joint probability statistic to identify 38 candidate genes with nominally significant enrichment for loss-of-function mutations in cases compared with controls.

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References

  1. Coe, B. P. et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nature Genet. http://dx.doi.org/10.1038/ng.3092 (2014)

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Authors
  1. Esther Lau
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Lau, E. Searching large and small. Nat Rev Genet 15, 706–707 (2014). https://doi.org/10.1038/nrg3840

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