Explanipedia

The APOE ε4 allele affects the survival of patients with Parkinson's disease independent of dementia Open

Zheng Wang, Li Lu, Qian Xu, Hongxu Pan, Yijing Wang , et al. · 2025

Gene4Denovo2: an updated platform for human <i>de novo</i> mutations discovery and interpretation Open

Zhaopo Zhu, Pei Yu, Xiaoyan Mao, Chenbin Liu, Kuokuo Li , et al. · 2025

De novo mutations (DNMs) drive evolution and increase biodiversity, yet concurrently act as a cryptic cause of numerous genetic diseases. Here, we present Gene4Denovo2 (https://genemed.tech/gene4denovo2/), an updated version of the Gene4De…

LB1113 Molecular features of leukemia cutis in acute myeloid leukemia Open

John Park, Guihu Zhao, Samantha Guhan, Cai‐Xia Yang, Cuong V. Nguyen · 2025

The intratumoral microbiome is negatively associated with malignancy in dermatofibrosarcoma protuberans Open

Xingxing Jian, Ziyang Liu, Jian Zhang, Yani Li, Lu Xie , et al. · 2025

In recent years, growing evidence demonstrated the critical roles of intratumoral microbes in tumors. However, the characteristics of intratumoral microbiome in dermatofibrosarcoma protuberans (DFSP) and their associations with tumor malig…

A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases Open

Jia-Qi Yang, Yuanfeng Huang, Zheng Wang, Shiyu Zhang, Wu Dai , et al. · 2025

Given the established association between numerous GBA1 variants and specific neurological diseases, we extended the exploration by a phenome-wide association study to assess the impact of GBA1 variants on a wider spectrum of health-relate…

Early detection of Parkinson’s disease through multiplex blood and urine biomarkers prior to clinical diagnosis Open

Shuo Gao, Zheng Wang, Yuanfeng Huang, Guang Yang, Yijing Wang , et al. · 2025

The hidden genetic and microbial networks connecting neuropsychiatric and digestive disorders Open

Jiayi Xiong, Tian-Tian Xu, Zheng Wang, Yuanfeng Huang, Shiyu Zhang , et al. · 2025

The gut-brain axis is a key interface between neuropsychiatric and digestive disorders, however, the underlying shared genetic mechanisms and microbial mediators remain poorly understood. Utilizing genome-wide association study (GWAS) data…

GoFCards: an integrated database and analytic platform for gain of function variants in humans Open

Wenjing Zhao, Yongsheng Tao, Jiayi Xiong, Lei Liu, Zhongqing Wang , et al. · 2024

Gain-of-function (GOF) variants, which introduce new or amplify protein functions, are essential for understanding disease mechanisms. Despite advances in genomics and functional research, identifying and analyzing pathogenic GOF variants …

A metabolomic profile of biological aging in 250,341 individuals from the UK Biobank Open

Shiyu Zhang, Zheng Wang, Yijing Wang, Yixiao Zhu, Qiao Zhou , et al. · 2024

The metabolomic profile of aging is complex. Here, we analyse 325 nuclear magnetic resonance (NMR) biomarkers from 250,341 UK Biobank participants, identifying 54 representative aging-related biomarkers associated with all-cause mortality.…

A comprehensive analysis of the health effects associated with smoking in the largest population using UK Biobank genotypic and phenotypic data Open

Zixun Lin, Jiayi Xiong, Jia-Qi Yang, Yuanfeng Huang, Jinchen Li , et al. · 2024

Casual associations between brain structure and sarcopenia: A large‐scale genetic correlation and mendelian randomization study Open

Guang Yang, Wenqing Xie, Bin Li, Guihu Zhao, Jinchen Li , et al. · 2024

Sarcopenia presenting a critical challenge in population‐aging healthcare. The elucidation of the interplay between brain structure and sarcopenia necessitates further research. The aim of this study is to explore the casual association be…

Genetic correlation and causality between smoking and 42 neuropsychiatric and gastrointestinal diseases Open

Jiayi Xiong, Wang Zheng, Yuanfeng Huang, Shiyu Zhang, Guang Yang , et al. · 2024

Background Previous investigations have elucidated epidemiological associations linking smoking to neuropsychiatric and gastrointestinal diseases, yet the underlying causal relationships remain enigmatic. To shed light on this matter, we u…

Glycated haemoglobin: a biomarker of the life expectancy of Parkinson’s disease patients with type 2 diabetes Open

Yinghong Dai, Zheng Wang, Yijing Wang, Lina Zhu, Yan Yi , et al. · 2024

Type 2 diabetes (T2D) elevates Parkinson's disease (PD) risk, yet Hemoglobin A1c (HbA1c) implications on PD survival are unclear. This study assessed HbA1c's influence on PD survival. PD patients from the UK Biobank were divided into T2D-P…

Risk factors associated with age at onset of Parkinson’s disease in the UK Biobank Open

Yuanfeng Huang, Qian Chen, Zheng Wang, Yijing Wang, Aojie Lian , et al. · 2024

Substantial evidence shown that the age at onset (AAO) of Parkinson’s disease (PD) is a major determinant of clinical heterogeneity. However, the mechanisms underlying heterogeneity in the AAO remain unclear. To investigate the risk factor…

Early Detection of Parkinson's Disease Through Multiplex Blood and Urine Biomarkers Prior to Clinical Diagnosis Open

Shuo Gao, Zheng Wang, Yuanfeng Huang, Guang Yang, Yijing Wang , et al. · 2024

Glycated Haemoglobin: A Biomarker of the Life Expectancy of Parkinson's Disease Patients with Type 2 Diabetes Open

Yinghong Dai, Zheng Wang, Yijing Wang, Lina Zhu, Yan Yi , et al. · 2024

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders Open

Kuokuo Li, Jifang Xiao, Zhengbao Ling, Tengfei Luo, Xiong Jing-yu , et al. · 2023

The present study was funded by grants from the National Natural Science Foundation of China, China Postdoctoral Science Foundation, the Hunan Youth Science and Technology Innovation Talent Project, the Provincial Natural Science Foundatio…

VarCards2: an integrated genetic and clinical database for ACMG-AMP variant-interpretation guidelines in the human whole genome Open

Zheng Wang, Guihu Zhao, Zhaopo Zhu, Yijing Wang, Xudong Xiang , et al. · 2023

VarCards, an online database, combines comprehensive variant- and gene-level annotation data to streamline genetic counselling for coding variants. Recognising the increasing clinical relevance of non-coding variations, there has been an a…

New Data-Driven Gated (DDG) PET/CT for Radiation Treatment Planning of NSCLC Open

T. Pan, Guihu Zhao, D. Luo · 2023

Combined Associations of Genetic and Environmental Risk Factors in Age of Parkinson’s Disease Onset Open

Jinchen Li, Yuanfeng Huang, Qian Chen, Zheng Wang, Yijing Wang , et al. · 2023

Substantial evidence has shown that the age at onset (AAO) of Parkinson’s disease (PD) is a major determinant of clinical heterogeneity. However, the mechanisms underlying heterogeneity in the AAO remain largely unknown. To investigate the…

[Effects of three-dimensional computed tomography angiography-assisted free medial sural artery perforator flap in repairing foot wounds]. Open

Jugao Fang, Guihu Zhao, H Z Li, L Q Zhang, Zhilin Liang , et al. · 2023

Objective: To investigate the effects of three-dimensional computed tomography angiography (3D-CTA)-assisted free medial sural artery perforator flap in repairing foot wounds. Methods: A retrospective observational study was …

Interactions of genetic risks for autism and the broad autism phenotypes Open

Lijie Dong, Yijing Wang, Xiaomeng Wang, Tengfei Luo, Qiao Zhou , et al. · 2023

Background Common polygenic risk and de novo variants (DNVs) capture a small proportion of autism spectrum disorder (ASD) liability, and ASD phenotypic heterogeneity remains difficult to explain. Integrating multiple genetic factors contri…

A comprehensive perspective of Huntington’s disease and mitochondrial dysfunction Open

Yinghong Dai, Haonan Wang, Aojie Lian, Jinchen Li, Guihu Zhao , et al. · 2023

Huntington's disease (HD) is an autosomal dominant neurodegenerative disease. It is caused by the expansion of the CAG trinucleotide repeat sequence in the HTT gene. HD mainly manifests as involuntary dance-like movements and severe mental…

Bidirectional Association between Ovarian Reserve and Spontaneous Miscarriage and Their Shared Genetic Architecture Open

Yan Yi, Jing Fu, Shi Xie, Qiong Zhang, Bin Xu , et al. · 2023

Performance evaluation of differential splicing analysis methods and splicing analytics platform construction Open

Kuokuo Li, Tengfei Luo, Yan Zhu, Yuanfeng Huang, An Wang , et al. · 2022

A proportion of previously defined benign variants or variants of uncertain significance in humans, which are challenging to identify, may induce an abnormal splicing process. An increasing number of methods have been developed to predict …

Profiling the Genome-Wide Landscape of Short Tandem Repeats by Long-Read Sequencing Open

Zhenhua Liu, Guihu Zhao, Yuhui Xiao, Sheng Zeng, Yanchun Yuan , et al. · 2022

Background: Short tandem repeats (STRs) are highly variable elements that play a pivotal role in multiple genetic diseases and the regulation of gene expression. Long-read sequencing (LRS) offers a potential solution to genome-wide STR ana…

Performance Comparison of Computational Methods for the Prediction of the Function and Pathogenicity of Non-Coding Variants Open

Zheng Wang, Guihu Zhao, Bin Li, Zhenghuan Fang, Qian Chen , et al. · 2022

Non-coding variants in the human genome significantly influence human traits and complex diseases via their regulation and modification effects. Hence, an increasing number of computational methods are developed to predict the effects of v…

The Contribution of Non-Canonical Splice Sites Variants in Parkinson's Disease-Associated Genes to RNA Splicing Open

Qian Chen, Yuanfeng Huang, Hongxu Pan, Yuwen Zhao, Yige Wang , et al. · 2022

Revealing a novel contributing landscape of ferroptosis-related genes in Parkinson’s disease Open

Xingxing Jian, Guihu Zhao, He Chen, Yanhui Wang, Jinchen Li , et al. · 2022

Transcriptomics studies have yielded great insights into disease processes by detecting differentially expressed genes (DEGs). In this study, due to the high heritability of Parkinson's disease (PD), we performed bioinformatics analyses on…

The Association Between Lysosomal Storage Disorder Genes and Parkinson’s Disease: A Large Cohort Study in Chinese Mainland Population Open

Yuwen Zhao, Hongxu Pan, Zhenhua Liu, Yige Wang, Qian Zeng , et al. · 2021

Background: Recent years have witnessed an increasing number of studies indicating an essential role of the lysosomal dysfunction in Parkinson’s disease (PD) at the genetic, biochemical, and cellular pathway levels. In this study, we inves…

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