Fig. 2
From: Mendelian gene identification through mouse embryo viability screening
WoL and gene features. a Distribution of mean CERES depletion scores. Histograms represent the probability distribution of mean CERES scores across cell lines for each WoL. b WoL and cellular essential genes. Percentage of EL, ML and LL genes considered cellular essential when a mean CERES depletion score across cell lines of −0.45 is considered as threshold. c Gene expression in brain. Boxplots show the distribution of human gene expression values for genes within each WoL across selected developmental stages for human brain. d SCoNeS scores. Boxplots show the distribution of SCoNeS scores, the predicted probability of a given gene being AR. The dashed grey line represents a threshold (SCoNeS > 0.75) used to identify genes underlying AR disorders. e LOEUF scores. Boxplots show the distribution of LOEUF scores across WoL. Low LOEUF scores indicate strong selection against predicted loss-of-function (pLoF) variation in a gene. The dashed grey line represents a threshold (LOEUF <0.35) used to identify genes that are constrained against pLoF variation. f WoL and paralogues. Barplots represent the percentage of genes with no paralogues (singletons) across WoL, with the proportion of genes with no duplicates decreasing across development stages. Tests for differences between WoL available in Additional file 1: Table S1-S3. For plots a–f, the data shown correspond to gene annotations for the human orthologues. WoL, windows of lethality; EL, early gestation lethal; ML, mid gestation lethal; LL, late gestation lethal; LOEUF, LoF observed/expected upper bound fraction; SCoNeS, supervised consensus negative selection; AR, autosomal recessive