Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics
For visual clarity scores below -1 were removed, for a total of 996 CCDS scores and 989 non-CCDS scores. The scores were calculated using a control cohort of 1,662 WGS samples. The distributions differ significantly (Permuted Mann-Whitney U test P value: 0.001). The CCDS scores’ variance is 0.023 and the non-CCDS scores’ variance is 0.042.