Results 41 to 50 of about 3,687 (173)

Gene burden meta‐analysis of 748 879 individuals identifies LGI1‐ADAM23 protein complex association with epilepsy

Epilepsia, Volume 67, Issue 7, Page e118-e125, July 2026.
Abstract Epilepsy affects more than 50 million individuals globally and has a substantial genetic component that remains to be completely understood. Traditional studies have focused on severe, early onset cases enrolled through clinical or research settings.
Jessica Castrillon Lal, Costin Leu, Christian M. Boßelmann, Alina Ivaniuk, Eduardo Pérez‐Palma, Dennis Lal   +5 more
wiley   +1 more source

DRIVE v3: Command Line Application for Identity‐by‐Descent Haplotype Clustering in Large Biobank Scale Data

Genetic Epidemiology, Volume 50, Issue 5, July 2026.
ABSTRACT There is a need for genetic analytical methods that integrate multi‐individual identity‐by‐descent (IBD) tools with phenotypic enrichment testing to discover novel shared haplotypes contributing to disease traits. Existing tools are designed to identify IBD sharing and leave interpretation and phenotype association tests to further analyses ...
James T. Baker, Hung‐Hsin Chen, Grahame F. Evans, Alyssa C. Scartozzi, Ryan J. Bohlender, Chad D. Huff, Quinn S. Wells, David C. Samuels, Jennifer E. Below   +8 more
wiley   +1 more source

MR-pheWAS with stratification and interaction: Searching for the causal effects of smoking heaviness identified an effect on facial aging.

PLoS Genetics, 2019
Mendelian randomization (MR) is an established approach to evaluate the effect of an exposure on an outcome. The gene-by-environment (GxE) study design can be used to determine whether the genetic instrument affects the outcome through pathways other ...
Louise A C Millard, Marcus R Munafò, Kate Tilling, Robyn E Wootton, George Davey Smith   +4 more
doaj   +1 more source

Endothelial GPR68 Is Essential for Arteriogenesis and Represents a Therapeutic Target in a Model of Peripheral Artery Disease

Advanced Science, Volume 13, Issue 31, 4 June 2026.
Endothelial GPR68 is identified as a critical regulator of collateral artery growth in peripheral artery disease. Genetic and pharmacological evidence demonstrates that GPR68 integrates hemodynamic cues to drive monocyte recruitment and inflammatory remodeling, thereby promoting collateral arteriogenesis and tissue perfusion after ischemia ...
Yiyan Song, Senyi Peng, Zhilei Huang, Miao Yu, Mingyue Wu, Yuexin Zhu, Zeyi Zhou, Yongshan Liu, Yalin Zhang, Yu Huang, Zhongxing Wang, Fu‐Li Xiang, Jie Xu   +12 more
wiley   +1 more source

EA-PheWAS: Integrating Phenotype Embeddings with PheWAS for Enhanced Gene-Phenotype Discovery

Phenome-wide association studies (PheWAS) enable systematic exploration of relationships between genetic variants and clinical phenotypes derived from electronic health records (EHRs). Conventional regression-based PheWAS treats phenotypes separately and relies on binary phenotype representations, which limits statistical power for rare variants and ...
Wangjie Zheng, Tianyu Liu, Leqi Xu, Yuhan Xie, Yueqian Jing, Haoran Shao, Hongyu Zhao   +6 more
openaire   +1 more source

Phenome-wide association studies as a research tool for identifying new pathogenetic links

Кардиоваскулярная терапия и профилактика
The accumulation of biospecimens associated with large-scale clinical data (data from electronic medical records, epidemiological and other large-scale studies) has made it possible to conduct studies aimed at studying associations between genetic ...
N. A. Mashkina, A. I. Ershova, O. V. Kopylova, O. M. Drapkina   +3 more
doaj   +1 more source

MR-PheWAS for the causal effects of serum magnesium on multiple disease outcomes in Caucasian descent

iScience, 2021
Summary: Magnesium is integral to many physiological processes, whereas variations in its levels, even within the normal range, can have critical implications for health.
Longman Li, Wenjun Yang, Lulu Huang, Xiuming Feng, Hong Cheng, Xiaoting Ge, Gaohui Zan, Yanli Tan, Lili Xiao, Chaoqun Liu, Xing Chen, Zengnan Mo, Xiaobo Yang   +12 more
doaj   +1 more source

Phenome‐ and Genome‐Wide Insights Into Dietary Patterns: Health Consequences and Genetic Basis

eFood, Volume 7, Issue 3, June 2026.
Three new dietary patterns were derived from quadratically regularized‐principal components analysis. These patterns showed strong associations with a wide range of diseases and genetic factors. ABSTRACT Dietary patterns (DPs) integrate complex eating behaviors and provide stronger insights into health than analyses of single nutrients.
Shuxiao Shi, Ying Dong, Zixin Hu, Libing Shen, Sujing Wang, Shuo Jiang, Deshan Wu, Nannan Feng, Lan Xu, Kexin Li, Kaixiong Ye, Xihao Du, Victor W. Zhong, Jingqi Zhou   +13 more
wiley   +1 more source

MendelR: A One‐Stop R Toolkit for Mendelian Randomization Analysis

Med Research, Volume 2, Issue 2, Page 198-203, June 2026.
ABSTRACT MendelR is a fully automated R package specifically developed for Mendelian randomization (MR) studies, designed to address the technical challenges of causal inference in biomedical research. As a powerful causal inference method, Mendelian randomization can effectively reduce confounding bias in observational studies.
Xiaohong Ke, Kailai Li, Anqi Lin, Yasi Zhang, Peng Luo   +4 more
wiley   +1 more source

How data science and AI-based technologies impact genomics

Singapore Medical Journal, 2023
Advancements in high-throughput sequencing have yielded vast amounts of genomic data, which are studied using genome-wide association study (GWAS)/phenome-wide association study (PheWAS) methods to identify associations between the genotype and phenotype.
Jing Lin, Kee Yuan Ngiam
doaj   +1 more source