Results 51 to 60 of about 41,823,825 (180)

Towards a Compositional Framework for Describing Human Phenotypes

Advanced Science, EarlyView.
The Phenotype Assembly Method (PhenoAM) decomposes phenotype variables into measurable Features and typed Qualifiers, enabling standardized, machine‐readable Phenome Data Elements (PhenoDEs) that preserve measurement context. Applied in the International Human Phenome Project (IHPP), the framework yields 58 371 PhenoDEs and supports component‐level ...
Wanting Hu, Yunchao Ling, Xinyue Hu, Wei Chen, Rong Zhou, Xinhao Zhuang, Yanfeng Jiang, Jialu Zhao, Xingdong Chen, Jingchun Luo, Li Jin, Guoqing Zhang   +11 more
wiley   +1 more source

Unraveling genotype–phenotype relationships in hereditary hemochromatosis through integrated biobank data analysis

BMC Genomics
Background Type I hereditary hemochromatosis (HH), caused by pathogenic HFE variants, is among the most common autosomal recessive disorders in Northern Europe.
Miriam Nurm, Tarmo Annilo, Sebastian May-Wilson, Anu Reigo, Reedik Mägi, Urmo Võsa, Neeme Tõnisson, Estonian Biobank Research Team, Toomas Haller   +8 more
doaj   +1 more source

MAPA: A Semantic Network Framework for Functional Module Discovery and Interpretation in Multi‐Omics Data

Advanced Science, EarlyView.
MAPA transforms complex multi‐omics data into biologically coherent functional modules by integrating pathway information with molecular interaction networks. Retrieval‐augmented large language models then generate structured, literature‐informed interpretations.
Yifei Ge, Feifan Zhang, Yijiang Liu, Chao Jiang, Peng Gao, Nguan Soon Tan, Sai Zhang, Yuchen Shen, Qianyi Zhou, Xin Zhou, Xiao Wang, Fangqing Zhao, Chuchu Wang, Xiaotao Shen   +13 more
wiley   +1 more source

Comprehensive Evidence for Mortality and Underlying Morbidity Related to Visceral Fat Distribution

Med Research
Linking obesity to mortality is an intriguing and controversial topic. This study tried to comprehensively assess 8 adiposity surrogates and mortality association among middle‐to‐old‐aged adults to identify a superior one, and explore explanatory ...
Haolong Zhou, Danyang Ling, Qin Huang, Jiaojun Liang, Guanhua Su, Zhangbo Cui, Ziwei Chen, Xiaowen Ma, Zhou Jiang, Shuo Zheng, Haodong Tian, Qi Wang   +11 more
doaj   +1 more source

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

Heliyon
Background: Smoking is a widespread behavior, while the relationship between smoking and various diseases remains a topic of debate. Objective: We conducted analysis to further examine the identified associations and assess potential causal relationships.
Zixun Lin, Jiayi Xiong, Jiaqi Yang, Yuanfeng Huang, Jinchen Li, Guihu Zhao, Bin Li   +6 more
doaj   +1 more source

Genetically mimicked effects of ASGR1 inhibitors on all-cause mortality and health outcomes: a drug-target Mendelian randomization study and a phenome-wide association study

BMC Medicine, 2023
Background Asialoglycoprotein receptor 1 (ASGR1) is emerging as a potential drug target to reduce low-density lipoprotein (LDL)-cholesterol and coronary artery disease (CAD) risk.
Guoyi Yang, C. Mary Schooling
doaj   +1 more source

Single‐Nucleus Transcriptomic Atlas of Human Vellus Hair Pilosebaceous Units Reveals Age‐Associated Remodeling

Advanced Science, EarlyView.
Human vellus pilosebaceous units (PSUs) remain uncharted. This single‐nucleus atlas reveals coordinated remodeling of the aging PSU niche: reduced bulge stem cell representation with altered regenerative programs, increased representation of a stress‐responsive channel+ epithelial state, enhanced androgen‐responsive sebaceous programs, reduced ...
Ya'nan Li, Zhuoqiong Qiu, Xiaoyu Pan, Geyang Xu, Shanshan Peng, Ronghui Zhu, Qiuyang Luo, Xiaokai Fang, Xu Yao, Wei Li   +9 more
wiley   +1 more source

Prioritizing susceptibility genes for the prognosis of male-pattern baldness with transcriptome-wide association study

Human Genomics
Background Male-pattern baldness (MPB) is the most common cause of hair loss in men. It can be categorized into three types: type 2 (T2), type 3 (T3), and type 4 (T4), with type 1 (T1) being considered normal.
Eunyoung Choi, Jaeseung Song, Yubin Lee, Yeonbin Jeong, Wonhee Jang   +4 more
doaj   +1 more source

A simulation study investigating power estimates in phenome-wide association studies

BMC Bioinformatics, 2018
Background Phenome-wide association studies (PheWAS) are a high-throughput approach to evaluate comprehensive associations between genetic variants and a wide range of phenotypic measures.
Anurag Verma, Yuki Bradford, Scott Dudek, Anastasia M. Lucas, Shefali S. Verma, Sarah A. Pendergrass, Marylyn D. Ritchie   +6 more
doaj   +1 more source

CRISPR‐Scan: Cas13a Mismatch Tolerance Enabled Ultra‐Multiplexed Detection of Same‐Site Indels in Acute Myeloid Leukemia

Advanced Science, EarlyView.
Accurately detecting diverse same‐locus insertions or deletions (indels) remains challenging. This study reveals the mismatch‐tolerance profile of LwaCas13a and establishes CRISPR‐Scan, which uses a single crRNA to detect multiple same‐locus indels. The one‐pot assay detects nucleophosmin 1 (NPM1) mutant allele frequencies down to 0.01%, agrees with ...
Linlin Bai, Bei Wang, Mingmin Shi, Dianwei Liu, Huimin Ji, Ting Wang, Ziwei Wang, Kaiming Guo, Xinyang Dou, Chunyan Qian, Fang Zhang, Yongming Wang, Hongju Mao, Rui Wang   +13 more
wiley   +1 more source