A snapshot of some pLI score pitfalls

被引：33

作者：

Ziegler, Alban ^{[1
]}

Colin, Estelle

Goudenege, David

Bonneau, Dominique

机构：

[1] Univ Hosp Angers, Biochem & Genet Dept, 4 Rue Larrey, F-49933 Angers 9, France

来源：

HUMAN MUTATION | 2019年 / 40卷 / 07期

关键词：

exome sequencing analysis; loss of function; pLI score; MUTATIONS;

D O I：

10.1002/humu.23763

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：839 / 841

页数：3

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