Fig. 8
From: Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes
ALoFT classification of 1000 Genomes and HGMD variants. Benign scores for premature stop variants in 1KG and HGMD. For this plot, we randomly selected one variant per gene. The “Benign pLoFs” set includes homozygous premature stop variants discovered in 1KG. The third (dark green) box plot pertains to premature stop variants in healthy 1KG individuals occurring in disease-causing genes obtained from HGMD. The fourth (blue) box plot pertains to pLoF variants in the subset of HGMD genes where 1KG pLoFs are also seen. “1KG pLoFs in non-HGMD genes” include 1KG variants not in HGMD genes, i.e., non-disease genes. “In genes only with HGMD pLoFs” includes HGMD variants in only those disease genes where 1KG pLoFs are not seen. In the box plots, the center line represents the median value of the data, the box goes from the first quartile to the third quartile. The lower whisker goes from Q1 to the smallest non-outlier in the data set, and the upper whisker goes from Q3 to the largest non-outlier in the data set. Outliers are indicated by the plotted points
