LOEUF (the loss-of-function observed/expected upper bound fraction) 和 pLI (probability of being Loss-of-function Intoleran)

LOEUF (the loss-of-function observed/expected upper bound fraction):
LOEUF is a conservative estimate of evolutionary selection against disease-causing variants based on the upper limit of the confidence interval for the observed/expected pLoF mutation rate. Genes with lower observed/expected pLoF variant ratios are evolutionarily constrained; LOEUF scores are binned into deciles ranging from 0 being most constrained, to 9, indicating least constrained.
大白话就是LOEUF数值越低，基因越重要。

pLI (probability of being Loss-of-function Intoleran)：
pLI is a dichotomous score in which pLI > 0.9 suggests that a gene is associated with severe phenotypes in the haploinsufficient state, and pLI < 0.1 suggests that a gene is not haploinsufficient;
genes with pLI scores ≥ 0.9 are interpreted as extremely intolerant to loss-of-function;
大白话就是pLI>0.9,说明基因很重要，反之没那么重要。