Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples

Guillaume Huguet, Catherine Schramm, Élise Douard, Lai Jiang, Aurélie Labbe, Frédérique Tihy, Géraldine Mathonnet, Sonia Nizard, Emmanuelle Lemyre, Alexandre Mathieu,

JAMA Psychiatry · 2018 · 103 citations · 40 references

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Abstract

Models trained on nonpathogenic deletions in the general population reliably estimate the effect size of pathogenic deletions and suggest omnigenic associations of haploinsufficiency with IQ. This represents a new framework to study variants too rare to perform individual association studies and can help estimate the cognitive effect of undocumented deletions in the neurodevelopmental clinic.

References

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