Results 11 to 20 of about 98,679 (202)

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

Journal of Medical Genetics, 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 PheWAS, and provide potential implications for future PheWAS studies.
Lijuan Wang, Xiaomeng Zhang, Xiangrui Meng, Fotios Koskeridis, Andrea Georgiou, Lili Yu, Harry Campbell, Evropi Theodoratou, Xue Li   +8 more
openaire   +6 more sources

A phenome-wide association study of genetically mimicked statins [PDF]

BMC Medicine, 2021
Background Beyond their success in cardiovascular disease prevention, statins are increasingly recognized to have sex-specific pleiotropic effects. To gain additional insight, we characterized associations of genetically mimicked statins across the ...
Shun Li, C. M. Schooling
doaj   +3 more sources

A phenome-wide association study of ABO blood groups [PDF]

BMC Medicine, 2020
Background ABO blood group is associated with differences in lifespan, cardiovascular disease, and some cancers, for reasons which are incompletely understood.
Shun Li, C. M. Schooling
doaj   +3 more sources

A phenome-wide association study of uterine fibroids reveals a marked burden of comorbidities. [PDF]

Commun Med (Lond)
Abstract Background The burden of comorbidities in those with uterine fibroids compared to those without fibroids is understudied. We performed a phenome-wide association study to systematically assess the association between fibroids and other conditions.
Jasper EA, Mautz BS, Hellwege JN, Piekos JA, Jones SH, Zhang Y, Torstenson ES, Pendergrass SA, Lee MTM, Edwards TL, Velez Edwards DR.   +10 more
europepmc   +6 more sources

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

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   +3 more sources

Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts [PDF]

Frontiers in Genetics, 2014
Objective: We report the first pediatric specific Phenome-Wide Association Study (PheWAS) using electronic medical records (EMRs). Given the early success of PheWAS in adult populations, we investigated the feasibility of this approach in pediatric ...
Bahram eNamjou, Bahram eNamjou, Keith eMarsolo, Keith eMarsolo, Robert eCarroll, Joshua eDenny, Marylyn D Ritchie, shefali esetia, Todd eLingren, Todd eLingren, Aleksey ePorollo, Aleksey ePorollo, Aleksey ePorollo, Beth ecobb, Cassandra ePerry, Leah Claire Kottyan, Leah Claire Kottyan, Leah Claire Kottyan, Ingrid Adele Holm, Isaac eKohane, John Barker Harley, John Barker Harley, John Barker Harley, John Barker Harley   +23 more
doaj   +2 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   +5 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   +18 more sources

A deep learning phenome wide association study of the electrocardiogram. [PDF]

Eur Heart J Digit Health
Abstract Aims Deep learning methods have shown impressive performance in detecting a range of diseases from electrocardiogram (ECG) waveforms, but the breadth of diseases that can be detected with high accuracy remains unknown, and in many cases the changes to the ECG allowing these classifications ...
Hughes JW, Theurer J, Vukadinovic M, Rogers AJ, Somani S, Kang G, Ghazizadeh Z, O'Sullivan JW, Jain SS, Gomes B, Salerno M, Ashley E, Zou JY, Perez MV, Ouyang D.   +14 more
europepmc   +3 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   +2 more sources