Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals. / Xu, Huixin; Zhen, Qi; Bai, Mingzhou; Fang, Lin; Zhang, Yong; Li, Bao; Ge, Huiyao; Moon, Sunjin; Chen, Weiwei; Fu, Wenqing; Xu, Qiongqiong; Zhou, Yuwen; Yu, Yafeng; Lin, Long; Yong, Liang; Zhang, Tao; Chen, Shirui; Liu, Siyang; Zhang, Hui; Chen, Ruoyan; Cao, Lu; Zhang, Yuanwei; Zhang, Ruixue; Yang, Huanjie; Hu, Xia; Akey, Joshua M.; Jin, Xin; Sun, Liangdan.

In: Genome Research, Vol. 31, No. 7, 2021, p. 1150-1158.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Xu, H, Zhen, Q, Bai, M, Fang, L, Zhang, Y, Li, B, Ge, H, Moon, S, Chen, W, Fu, W, Xu, Q, Zhou, Y, Yu, Y, Lin, L, Yong, L, Zhang, T, Chen, S, Liu, S, Zhang, H, Chen, R, Cao, L, Zhang, Y, Zhang, R, Yang, H, Hu, X, Akey, JM, Jin, X & Sun, L 2021, 'Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals', Genome Research, vol. 31, no. 7, pp. 1150-1158. https://doi.org/10.1101/gr.267963.120

APA

Xu, H., Zhen, Q., Bai, M., Fang, L., Zhang, Y., Li, B., Ge, H., Moon, S., Chen, W., Fu, W., Xu, Q., Zhou, Y., Yu, Y., Lin, L., Yong, L., Zhang, T., Chen, S., Liu, S., Zhang, H., ... Sun, L. (2021). Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals. Genome Research, 31(7), 1150-1158. https://doi.org/10.1101/gr.267963.120

Vancouver

Xu H, Zhen Q, Bai M, Fang L, Zhang Y, Li B et al. Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals. Genome Research. 2021;31(7):1150-1158. https://doi.org/10.1101/gr.267963.120

Author

Xu, Huixin ; Zhen, Qi ; Bai, Mingzhou ; Fang, Lin ; Zhang, Yong ; Li, Bao ; Ge, Huiyao ; Moon, Sunjin ; Chen, Weiwei ; Fu, Wenqing ; Xu, Qiongqiong ; Zhou, Yuwen ; Yu, Yafeng ; Lin, Long ; Yong, Liang ; Zhang, Tao ; Chen, Shirui ; Liu, Siyang ; Zhang, Hui ; Chen, Ruoyan ; Cao, Lu ; Zhang, Yuanwei ; Zhang, Ruixue ; Yang, Huanjie ; Hu, Xia ; Akey, Joshua M. ; Jin, Xin ; Sun, Liangdan. / Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals. In: Genome Research. 2021 ; Vol. 31, No. 7. pp. 1150-1158.

Bibtex

@article{0213513bf20d4c3c8b9b6b6daa8466fd,
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.",
keywords = "NATURAL-SELECTION, ASSOCIATION, POPULATION, FRAMEWORK, MUTATION, DATABASE, GENOMES, HUMANS, BURDEN, MAP",
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",
year = "2021",
doi = "10.1101/gr.267963.120",
language = "English",
volume = "31",
pages = "1150--1158",
journal = "Genome Research",
issn = "1088-9051",
publisher = "Cold Spring Harbor Laboratory Press",
number = "7",

}

RIS

TY - JOUR

T1 - Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals

AU - Xu, Huixin

AU - Zhen, Qi

AU - Bai, Mingzhou

AU - Fang, Lin

AU - Zhang, Yong

AU - Li, Bao

AU - Ge, Huiyao

AU - Moon, Sunjin

AU - Chen, Weiwei

AU - Fu, Wenqing

AU - Xu, Qiongqiong

AU - Zhou, Yuwen

AU - Yu, Yafeng

AU - Lin, Long

AU - Yong, Liang

AU - Zhang, Tao

AU - Chen, Shirui

AU - Liu, Siyang

AU - Zhang, Hui

AU - Chen, Ruoyan

AU - Cao, Lu

AU - Zhang, Yuanwei

AU - Zhang, Ruixue

AU - Yang, Huanjie

AU - Hu, Xia

AU - Akey, Joshua M.

AU - Jin, Xin

AU - Sun, Liangdan

PY - 2021

Y1 - 2021

N2 - 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.

AB - 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.

KW - NATURAL-SELECTION

KW - ASSOCIATION

KW - POPULATION

KW - FRAMEWORK

KW - MUTATION

KW - DATABASE

KW - GENOMES

KW - HUMANS

KW - BURDEN

KW - MAP

U2 - 10.1101/gr.267963.120

DO - 10.1101/gr.267963.120

M3 - Journal article

C2 - 34155038

VL - 31

SP - 1150

EP - 1158

JO - Genome Research

JF - Genome Research

SN - 1088-9051

IS - 7

ER -

ID: 276951243