Results 21 to 30 of about 39,899,172 (210)

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

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   +3 more sources

Polygenic risk score phenome-wide association study reveals an association between endometriosis and testosterone [PDF]

BMC Medicine, 2023
Background Endometriosis affects 1 in 9 women, yet it is poorly understood with long diagnostic delays, invasive diagnoses, and poor treatment outcomes. Characterised by the presence of endometrial-like tissue outside of the uterus, its main symptoms are
Isabelle M. McGrath, International Endometriosis Genetics Consortium, Grant W. Montgomery, Sally Mortlock   +3 more
doaj   +2 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   +7 more sources

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

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

A sex-specific Mendelian randomization-phenome-wide association study of body mass index [PDF]

eLife
Background: Trials of incretins are making it increasingly clear that body mass index (BMI) is linked to several diseases throughout life, but trials cannot easily provide a comprehensive assessment of the role of BMI in health-related attributes for men
Zhu Liduzi Jiesisibieke, Io Ieong Chan, Jack Chun Man Ng, C Mary Schooling   +3 more
doaj   +2 more sources

Comprehensive analysis of genetic associations and single-cell expression profiles reveals potential links between migraine and multiple diseases: a phenome-wide association study [PDF]

Frontiers in Neurology
Migraine is a common neurological disorder that affects more than one billion people worldwide. Recent genome-wide association studies have identified 123 genetic loci associated with migraine risk.
Di Ouyang, Di Ouyang, Chunying Huang, Huihua Liu, Weiming Xie, Chengsheng Chen, Ben Su, Lizhong Guo   +7 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   +2 more sources

A phenome-wide association study of polygenic scores for selected childhood cancer: Results from the UK Biobank [PDF]

HGG Advances
Summary: The aim of this study was to scan phenotypes in adulthood associated with polygenic risk scores (PRS) for childhood cancers with well-articulated genetic architectures—acute lymphoblastic leukemia (ALL), Ewing sarcoma, and neuroblastoma—to ...
Eun Mi Jung, Andrew R. Raduski, Lauren J. Mills, Logan G. Spector   +3 more
doaj   +2 more sources

Phenome-wide association study identifies new clinical phenotypes associated with Staphylococcus aureus infections. [PDF]

PLoS ONE
BackgroundPhenome-Wide Association study (PheWAS) is a powerful tool designed to systematically screen clinical observations derived from medical records (phenotypes) for association with a variable of interest.
Patrick Allaire, Noha S Elsayed, Richard L Berg, Warren Rose, Sanjay K Shukla   +4 more
doaj   +2 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   +13 more sources