Biochemistry and Genetics Department, University Hospital of Angers, Angers, France.
MitoLab, UMR CNRS 6015-INSERM, MitoVasc Institute, University of Angers, Angers, France.
Hum Mutat. 2019 Jul;40(7):839-841. doi: 10.1002/humu.23763. Epub 2019 Apr 29.
The pLI score reflects the tolerance of a given gene to the loss of function on the basis of the number of protein truncating variants, that is, the frameshift, splice donor, splice acceptor, and stop-gain variants referenced for this gene in control databases weighted by the size of the gene and the sequencing coverage. It is frequently used to prioritize candidate genes when analyzing whole exome or whole genome data. We list here the main pitfalls to consider before using this score. Concrete illustrations are given for each of these pitfalls.
pLI 评分反映了给定基因在功能丧失方面的容忍度，其依据是控制数据库中参考的该基因的蛋白质截断变异数量，即移码、剪接供体、剪接受体和无义突变变异，并根据基因大小和测序覆盖度进行加权。在分析全外显子组或全基因组数据时，该评分常用于优先考虑候选基因。在使用该评分之前，我们列出了需要考虑的主要陷阱。针对每个陷阱，我们都给出了具体的示例。
