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Hum Mutat. 2019 Apr 12. doi: 10.1002/humu.23763. [Epub ahead of print]

A snapshot of some pLI score pitfalls.

Author information

1
Biochemistry and Genetics Department, University Hospital of Angers, Angers, France.
2
MitoLab, UMR CNRS 6015-INSERM, MitoVasc Institute, University of Angers, Angers, France.

Abstract

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, i.e. the frameshift, splice donor, splice acceptor, and stop-gained 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. This article is protected by copyright. All rights reserved.

KEYWORDS:

Exome sequencing analysis; Loss of function; pLI score

PMID:
30977936
DOI:
10.1002/humu.23763

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