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. Author manuscript; available in PMC: 2020 Jul 13.
Published in final edited form as: Nat Neurosci. 2020 Jan 13;23(2):179–184. doi: 10.1038/s41593-019-0565-2

Figure 1.

Figure 1

Gene set enrichment for loss-of-function de novo variants. Loss-of-function (LoF) DNVs were tested in LoF intolerant genes and neurodevelopmental disorder genes. For LoF intolerant and neurodevelopmental disorder gene sets, rate ratios and 95% confidence intervals are relative to the baseline DNV rate, which is defined as the LoF DNV enrichment observed for all genes outside of the given set. LoF DNV enrichment for LoF tolerant genes are shown as a negative control. A breakdown of the LoF intolerant and neurodevelopmental disorder gene set results is provided in Supplementary Tables S2 and S3. NDD = neurodevelopmental disorder.