Results 51 to 60 of about 22,489,720 (176)

Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome [PDF]

, 2022
Tourette Syndrome (TS) is a complex neurodevelopmental disorder characterized by vocal and motor tics lasting more than a year. It is highly polygenic in nature with both rare and common previously associated variants.
et al, Walitza, Susanne; https://orcid.org/, Miller-Fleming, Tyne, Jain, Pritesh; https://orcid.org/, Topaloudi, Apostolia   +4 more
core   +1 more source

Charting Endocrine Progenitors Across Species and Organs

Advanced Science, EarlyView.
Endocrine progenitors give rise to the hormone‐producing cells of the pancreas and intestine. Using single‐cell multiomics and proteomics, this study compares these progenitors across species, systems, and organs, mapping the conserved and species‐specific gene regulatory networks that guide their formation.
Changying Jing, Michael Sterr, Özüm Sehnaz Caliskan, Lama Saber, Nicole Katarina Rogers, Samuel Ogden, Kei Kozawa, Christos Karampelias, Jessica Jaki, Aimée Bastidas‐Ponce, Falk Janos Farkas, Oliver Czarnecki, Osvaldo Rodrigues Pereira, Perla Cota, Valerie Vandenbempt, Diego Balboa, Anika Böttcher, Natalie Krahmer, Mohammad Lotfollahi, Julie B. Sneddon, Heiko Lickert, Mostafa Bakhti   +21 more
wiley   +1 more source

Commentary on: Genetic predictors of GLP1 receptor agonist weight loss and side effects (Nature volume 653, pages 770-775 (2026)). [PDF]

J Diabetes Investig
Journal of Diabetes Investigation, EarlyView.
Toda G, Yamauchi T.
europepmc   +2 more sources

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

Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes

Genome Medicine, 2021
Background Deletions and duplications of the multigenic 16p11.2 and 22q11.2 copy number variant (CNV) regions are associated with brain-related disorders including schizophrenia, intellectual disability, obesity, bipolar disorder, and autism spectrum ...
Mikhail Vysotskiy, Xue Zhong, Tyne W. Miller-Fleming, Dan Zhou, Autism Working Group of the Psychiatric Genomics Consortium^, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium^, Schizophrenia Working Group of the Psychiatric Genomics Consortium^, Nancy J. Cox, Lauren A. Weiss   +8 more
doaj   +1 more source

A Phenome Wide Association Study of Multiple Sclerosis and COmorbidities [PDF]

, 2017
Genome wide association studies (GWAS) have identified relationships between many different genes and diseases. GWAS studies scan whole genomes of many individuals and then associate genetic variants with diseases that the individuals have.
Davis, Mary, Frodsham, Scott
core  

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

An integrative functional genomics framework for effective identification of novel regulatory variants in genome–phenome studies

Genome Medicine, 2018
Background Genome–phenome studies have identified thousands of variants that are statistically associated with disease or traits; however, their functional roles are largely unclear.
Junfei Zhao, Feixiong Cheng, Peilin Jia, Nancy Cox, Joshua C. Denny, Zhongming Zhao   +5 more
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

The trend towards phenome-wide association studies (PheWASs) in covid-19 research [PDF]

, 2022
Background: Coronavirus Disease-2019 (COVID-19) appears in individuals asymptomatically and in various symptomatic forms. Symptomatic diversity can result in diagnosis failures, hospitalization, admission to intensive care, multi-organ failure, and death.
Atçeken, Nazente, Kozalak, Gül, Ozgul, Rıza Köksal, Syed, Hamzah   +3 more
core