A snapshot of some pLI score pitfalls

TitreA snapshot of some pLI score pitfalls
Type de publicationArticle de revue
AuteurZiegler, Alban , Colin, Estelle , Goudenège, David , Bonneau, Dominique
EditeurWiley
TypeArticle scientifique dans une revue à comité de lecture
Année2019
LangueAnglais
DateJuillet 2019
Numéro7
Pagination839-841
Volume40
Titre de la revueHuman Mutation
ISSN1098-1004
Mots-clésexome sequencing analysis, loss of function, pLI score
Résumé en anglais

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.

URL de la noticehttp://okina.univ-angers.fr/publications/ua19792
DOI10.1002/humu.23763
Lien vers le document

https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23763

Titre abrégéHum. Mutat.
Identifiant (ID) PubMed30977936