@article{f7311a6be385464f89cdecffda9d9ae1,
title = "Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals",
abstract = "Protein-truncating variants (PTVs) have important impacts on phenotype diversity and disease. However, their population genetics characteristics in more globally diverse populations are not well defined. Here, we describe patterns of PTVs in 1320 genes sequenced in 10,539 healthy controls and 9434 patients with psoriasis, all of Han Chinese ancestry. We identify 8720 PTVs, of which 77% are novel, and estimate 88% of all PTVs are deleterious and subject to purifying selection. Furthermore, we show that individuals with psoriasis have a significantly higher burden of PTVs compared to controls (P = 0.02). Finally, we identified 18 PTVs in 14 genes with unusually high levels of population differentiation, consistent with the action of local adaptation. Our study provides insights into patterns and consequences of PTVs.",
author = "Huixin Xu and Qi Zhen and Mingzhou Bai and Lin Fang and Yong Zhang and Bao Li and Huiyao Ge and Sunjin Moon and Weiwei Chen and Wenqing Fu and Qiongqiong Xu and Yuwen Zhou and Yafeng Yu and Long Lin and Liang Yong and Tao Zhang and Shirui Chen and Siyang Liu and Hui Zhang and Ruoyan Chen and Lu Cao and Yuanwei Zhang and Ruixue Zhang and Huanjie Yang and Xia Hu and Akey, {Joshua M.} and Xin Jin and Liangdan Sun",
note = "Publisher Copyright: {\textcopyright} 2021 Xu et al. This article is distributed exclusively by Cold Spring Harbor Laboratory Press for the first six months after the full-issue publication date (see https://genome.cshlp.org/site/misc/terms.xhtml). After six months, it is available under a Creative Commons License (Attribution-NonCommercial 4.0 International), as described at http://creativecommons.org/licenses/by-nc/4.0/.",
year = "2021",
month = jul,
doi = "10.1101/gr.267963.120",
language = "English (US)",
volume = "31",
pages = "1150--1158",
journal = "Genome Research",
issn = "1088-9051",
publisher = "Cold Spring Harbor Laboratory Press",
number = "7",
}