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. Author manuscript; available in PMC: 2021 Mar 17.
Published in final edited form as: N Engl J Med. 2020 Aug 12;383(12):1107–1116. doi: 10.1056/NEJMoa1908753

Figure 3. Loss-of-Function Signal in Intolerant Genes in Three Clinical Cohorts.

Figure 3.

In this study, the LOEUF threshold that had the strongest enrichment of loss-of-function variants (≤0.239) in the 241 cases in the stillbirth cohort was used to make point comparisons with the loss-of-function signal in a group of 251 live-birth cases with fetal anomalies and in 589 cases with postnatal disease. The odds ratio indicates the enrichment of loss-of-function variants in the gene set in cases as compared with a large group of controls. The gene sets are shown in three categories: all the genes below the LOEUF threshold (≤0.239), those that had an existing disease association in the Online Mendelian Inheritance in Man (OMIM) database, and those that did not have such an association (non-OMIM).