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A snapshot of some pLI score pitfalls
Author(s) -
Ziegler Alban,
Colin Estelle,
Goudenège David,
Bonneau Dominique
Publication year - 2019
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.23763
Subject(s) - biology , frameshift mutation , splice , gene , genetics , snapshot (computer storage) , computational biology , genome , exome sequencing , bioinformatics , mutation , computer science , database
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.