Results 11 to 20 of about 41,823,825 (180)

Joint mouse–human phenome-wide association to test gene function and disease risk [PDF]

Nature Communications, 2016
Phenome-wide association is a novel method that links sequence variants to a spectrum of phenotypes and diseases. Here the authors generate detailed mouse genetic and phenome data which links their phenome-wide association study (PheWAS) of mouse to ...
Xusheng Wang, Ashutosh K. Pandey, Megan K. Mulligan, Evan G. Williams, Khyobeni Mozhui, Zhengsheng Li, Virginija Jovaisaite, L. Darryl Quarles, Zhousheng Xiao, Jinsong Huang, John A. Capra, Zugen Chen, William L. Taylor, Lisa Bastarache, Xinnan Niu, Katherine S. Pollard, Daniel C. Ciobanu, Alexander O. Reznik, Artem V. Tishkov, Igor B. Zhulin, Junmin Peng, Stanley F. Nelson, Joshua C. Denny, Johan Auwerx, Lu Lu, Robert W. Williams   +25 more
doaj   +5 more sources

Phenome-wide association studies across large population cohorts support drug target validation [PDF]

Nature Communications, 2018
Testing the association between genetic variants and a range of phenotypes can assist drug development. Here, in a phenome-wide association study in up to 697,815 individuals, Diogo et al.
Dorothée Diogo, Chao Tian, Christopher S. Franklin, Mervi Alanne-Kinnunen, Michael March, Chris C. A. Spencer, Ciara Vangjeli, Michael E. Weale, Hannele Mattsson, Elina Kilpeläinen, Patrick M. A. Sleiman, Dermot F. Reilly, Joshua McElwee, Joseph C. Maranville, Arnaub K. Chatterjee, Aman Bhandari, Khanh-Dung H. Nguyen, Karol Estrada, Mary-Pat Reeve, Janna Hutz, Nan Bing, Sally John, Daniel G. MacArthur, Veikko Salomaa, Samuli Ripatti, Hakon Hakonarson, Mark J. Daly, Aarno Palotie, David A. Hinds, Peter Donnelly, Caroline S. Fox, Aaron G. Day-Williams, Robert M. Plenge, Heiko Runz   +33 more
doaj   +4 more sources

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

Transl Psychiatry, 2023
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.
Jain P, Miller-Fleming T, Topaloudi A, Yu D, Drineas P, Georgitsi M, Yang Z, Rizzo R, Müller-Vahl KR, Tumer Z, Mol Debes N, Hartmann A, Depienne C, Worbe Y, Mir P, Cath DC, Boomsma DI, Roessner V, Wolanczyk T, Janik P, Szejko N, Zekanowski C, Barta C, Nemoda Z, Tarnok Z, Buxbaum JD, Grice D, Glennon J, Stefansson H, Hengerer B, Benaroya-Milshtein N, Cardona F, Hedderly T, Heyman I, Huyser C, Morer A, Mueller N, Munchau A, Plessen KJ, Porcelli C, Walitza S, Schrag A, Martino D, Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS), EMTICS collaborative group, Dietrich A, TS-EUROTRAIN Network, Mathews CA, Scharf JM, Hoekstra PJ, Davis LK, Paschou P.   +51 more
europepmc   +12 more sources

Phenome-wide association study and functional annotation of hemoglobin A1c-associated variants in African populations. [PDF]

PLoS One
Background Glycated hemoglobin (HbA1c) measures the average blood sugar level over the past three months. As a vital biomarker of blood glucose levels, it is used to diagnose Type-2 diabetes mellitus (T2D) and monitor glycemic control.
Soremekun C, Ojewunmi O, Nwagbata A, Bazireh H, Sharma S, Jjingo D, Kateete DP, Nash O, Grallert H, Batini C, Peters A, Fatumo S.   +11 more
europepmc   +4 more sources

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

DeepPheWAS: an R package for phenotype generation and association analysis for phenome-wide association studies

, 2023
DeepPheWAS is an R package for phenome-wide association studies that creates clinically curated composite phenotypes and integrates quantitative phenotypes from primary care data, longitudinal trajectories of quantitative measures, disease progression ...
Pearson, Willow, Wain, Louise, Shrine, Nick, Edris, Ahmed, Hollox, Edward J., Bratty, John Raymond, Hennah, William, Dudbridge, Frank, Rao, Balasubramanya S., Fawcett, Katherine A., Marttila, Mikko, Williams, Alex T., Guyatt, Anna L., Eisenberg, Micaela T., Packer, Richard J., Tobin, Martin D., Alex T Williams, Guyatt, Anna L, Mikko Marttila, Rao, Balasubramanya S, Louise V Wain, Tobin, Martin D, John Raymond Bratty, Hollox, Edward J, Fawcett, Katherine A, Frank Dudbridge, Richard J Packer, Packer, Richard J, Ahmed Edris, Wain, Louise V, Micaela T Eisenberg, Balasubramanya S Rao, Williams, Alex T, Martin D Tobin, Willow Pearson, Edward J Hollox, Anna L Guyatt, Eisenberg, Micaela T, William Hennah, Katherine A Fawcett   +39 more
core   +5 more sources

Methodology in phenome-wide association studies:a systematic review [PDF]

, 2021
Phenome-wide association study (PheWAS) has been increasingly used to identify novel genetic associations across a wide spectrum of phenotypes. This systematic review aims to summarise the PheWAS methodology, discuss the advantages and challenges of ...
Zhang, Xiaomeng, Meng, Xiangrui, Georgiou, Andrea, Li, Xue, Yu, Lili, Theodoratou, Evropi; id_orcid, Campbell, Harry; id_orcid, Koskeridis, Fotios, Wang, Lijuan, Xiaomeng Zhang, Fotios Koskeridis, Andrea Georgiou, Harry Campbell, Evropi Theodoratou, Lili Yu, Xiangrui Meng, Lijuan Wang, Xue Li   +17 more
core   +1 more source

Identifying shared genetic architecture between rheumatoid arthritis and other conditions: a phenome-wide association study with genetic risk scores [PDF]

EBioMedicine, 2023
Harrison G Zhang, Katherine P Liao, Kumar Dahal   +2 more
exaly   +2 more sources

Comorbidities in lichen planus by phenome-wide association study in two biobank population cohorts. [PDF]

, 2022
BACKGROUND Lichen planus (LP) is a relative frequent mucocutaneous inflammatory disease affecting the skin, skin appendages, and mucosae, including oral mucosae, and less frequently anogenital area, conjunctivae, esophagus, or larynx.
Schlapbach, Christoph, Borradori, Luca, Schneider, Carolin V, Fromme, Malin, Rader, Dan J, Trautwein, Christian, Cazzaniga, Simone, Strnad, Pavel, Dan J. Rader, Luca Borradori, Carolin V. Schneider, Christian Trautwein, Pavel Strnad, Simone Cazzaniga, Christoph Schlapbach, Malin Fromme   +15 more
core   +2 more sources

Genome-Wide Association Studies of Soybean Yield-Related Hyperspectral Reflectance Bands Using Machine Learning-Mediated Data Integration Methods

Frontiers in Plant Science, 2021
In conjunction with big data analysis methods, plant omics technologies have provided scientists with cost-effective and promising tools for discovering genetic architectures of complex agronomic traits using large breeding populations.
Mohsen Yoosefzadeh-Najafabadi, Sepideh Torabi, Dan Tulpan, Istvan Rajcan, Milad Eskandari   +4 more
doaj   +1 more source