Fig. 3

WoL and human disease. a Mendelian disease genes. Barplots represent the percentage of rare disease associated genes in each WoL according to PanelApp, only ‘green’ genes with a high level of evidence for the gene-disease association were included. b Mode of inheritance. Barplots represent the percentage of Mendelian genes by associated allelic requirement across WoL, only monoallelic or biallelic genes were included. c Disease category. Mendelian genes by disease type according to PanelApp level 2 disease categories, with the bars indicating the percentage of PanelApp genes mapping each disease class for the 3 WoL. For plots a–c, the dashed grey line represents the baseline percentage for the entire set of protein coding genes (19,197 genes according to HGNC, a) or PanelApp ‘green’ genes (3384 genes, b, c). d Disease categories OR and BH adjusted P values for EL genes compared to ANEL genes: this included mid and late gestation lethal genes as well as subviable and viable categories. e Disease category overlap. Overlap between genes associated with the most frequent disease categories across WoL for EL, ML and LL genes respectively. Tests for differences between WoL are available in Additional file 1: Table S4. WoL, windows of lethality; EL, early gestation lethal; ML, mid gestation lethal; LL, late gestation lethal; HGNC, HUGO Gene Nomenclature Committee; ANEL, all non-early gestation lethal genes; OR, odds ratio; BH, Benjamini-Hochberg