Extended Data Fig. 4: Predicted Gene burden distribution in constrained genes.
From: Genetic architecture in Greenland is shaped by demography, structure and selection
The gene burden frequency, Burdenfreq, is the proportion of individuals carrying one or more predicted deleterious variants in a gene and ‘common’ is the proportion of the gene burden which is attributed to the most common predicted deleterious variant in the gene. The predicted deleterious variants were here defined as being a missense or LoF variant with an allele frequency lower than 0.01% in African individuals (1KG populations: LWK, ESN, YRI, MSL, and GWD). Proportion (95%CI) of constrained genes. a, The two first panels are the same as Fig. 1g, the third panel shows the proportion of constrained genes where the most common predicted deleterious variant contributes between 50% to 90% of the gene burden, and the fourth panel shows the proportion of genes with a gene burden frequency ≤ 1%. b, similar to a, but changing the common-threshold to 80% instead of 90%.
