南方科技大学知识苑(SUSTech KC): Bayesian network-based Mendelian randomization for variant prioritization and phenotypic causal inference

题名	Bayesian network-based Mendelian randomization for variant prioritization and phenotypic causal inference
作者	Sun, Jianle 1; Zhou, Jie 1; Gong, Yuqiao 1; Pang, Chongchen 1; Ma, Yanran 1; Zhao, Jian2,3 ; Yu, Zhangsheng 1; Zhang, Yue 1
通讯作者	Yu, Zhangsheng; Zhang, Yue
发表日期	2024-02-01
DOI	10.1007/s00439-024-02640-x
发表期刊	HUMAN GENETICS 影响因子和分区
ISSN	0340-6717
EISSN	1432-1203
摘要	Mendelian randomization is a powerful method for inferring causal relationships. However, obtaining suitable genetic instrumental variables is often challenging due to gene interaction, linkage, and pleiotropy. We propose Bayesian network-based Mendelian randomization (BNMR), a Bayesian causal learning and inference framework using individual-level data. BNMR employs the random graph forest, an ensemble Bayesian network structural learning process, to prioritize candidate genetic variants and select appropriate instrumental variables, and then obtains a pleiotropy-robust estimate by incorporating a shrinkage prior in the Bayesian framework. Simulations demonstrate BNMR can efficiently reduce the false-positive discoveries in variant selection, and outperforms existing MR methods in terms of accuracy and statistical power in effect estimation. With application to the UK Biobank, BNMR exhibits its capacity in handling modern genomic data, and reveals the causal relationships from hematological traits to blood pressures and psychiatric disorders. Its effectiveness in handling complex genetic structures and modern genomic data highlights the potential to facilitate real-world evidence studies, making it a promising tool for advancing our understanding of causal mechanisms.
相关链接	[来源记录]
收录类别	SCI
语种	英语
学校署名	其他
WOS研究方向	Genetics & Heredity
WOS类目	Genetics & Heredity
WOS记录号	WOS:001168935000001
出版者	SPRINGER
ESI学科分类	MOLECULAR BIOLOGY & GENETICS
来源库	Web of Science
引用统计
成果类型	期刊论文
条目标识符	http://sustech.caswiz.com/handle/2SGJ60CL/789076
专题	南方科技大学医学院_公共卫生及应急管理学院
作者单位	1.Shanghai Jiao Tong Univ, Dept Bioinformat & Biostat, Shanghai, Peoples R China 2.Southern Univ Sci & Technol, Sch Publ Hlth & Emergency Management, Shenzhen, Peoples R China 3.Univ Bristol, MRC Integrat Epidemiol Unit, Bristol, England
推荐引用方式 GB/T 7714	Sun, Jianle,Zhou, Jie,Gong, Yuqiao,et al. Bayesian network-based Mendelian randomization for variant prioritization and phenotypic causal inference[J]. HUMAN GENETICS,2024.
APA	Sun, Jianle.,Zhou, Jie.,Gong, Yuqiao.,Pang, Chongchen.,Ma, Yanran.,...&Zhang, Yue.(2024).Bayesian network-based Mendelian randomization for variant prioritization and phenotypic causal inference.HUMAN GENETICS.
MLA	Sun, Jianle,et al."Bayesian network-based Mendelian randomization for variant prioritization and phenotypic causal inference".HUMAN GENETICS (2024).