Results 11 to 20 of about 6,040 (161)

Risk factors underlying brain structure change rate in cognitive decline: Results from genomewide and phenomewide investigations. [PDF]

Alzheimers Dement
Abstract INTRODUCTION The genetic and clinical factors influencing the rate of brain structure change in cognitive decline remain poorly understood. This study aimed to identify genetic variants and risk factors contributing to these changes and explore potential causal relationships.
Jin Y, Topaloudi A, Drineas P, Paschou P.   +3 more
europepmc   +2 more sources

Archipelago Method for Variant Set Association Test Statistics. [PDF]

Genet Epidemiol
ABSTRACT Variant set association tests (VSAT), especially those incorporating rare variants via variant collapse, are invaluable in genetic studies. However, unlike Manhattan plots for single‐variant tests, VSAT statistics lack intrinsic genomic coordinates, hindering visual interpretation.
Lawless D, Saadat A, Oumelloul MA, Schlapbach LJ, Fellay J.   +4 more
europepmc   +2 more sources

Optimizing Control Definitions in Opioid Use Disorder Genetic Research Using Electronic Health Records. [PDF]

Addict Biol
This study contributes to the broader discussion of control selection in opioid use disorder (OUD) research. By comparing unscreened (“generic”) versus minimally opioid‐exposed controls in phenome‐wide association analyses, generic controls produced larger effect sizes and more associations, though most results overlapped.
Niarchou M, Tsai EL, Jennings MV, Faucon A, Lee H, Singh K, Tubbs JD, Roussos P, Ge T, Crist RC, Vickers-Smith R, Edenberg H, Moore A, Webb BT, Johnson EO, PsycheMERGE Substance Use Disorder Workgroup, Kember RL, Smoller JW, Davis LK, Coombes BJ, Voloudakis G, Burstein D, Mallard TT, Troiani V, Sanchez-Roige S.   +24 more
europepmc   +2 more sources

Hypothesis exploration with visualization of variance. [PDF]

, 2014
BackgroundThe Consortium for Neuropsychiatric Phenomics (CNP) at UCLA was an investigation into the biological bases of traits such as memory and response inhibition phenotypes-to explore whether they are linked to syndromes including ADHD, Bipolar ...
Bilder, Robert M, Congdon, Eliza, Parker, Douglass Stott   +2 more
core   +4 more sources

Phenome-wide association studies on a quantitative trait: application to TPMT enzyme activity and thiopurine therapy in pharmacogenomics. [PDF]

PLoS Computational Biology, 2013
Phenome-Wide Association Studies (PheWAS) investigate whether genetic polymorphisms associated with a phenotype are also associated with other diagnoses.
Antoine Neuraz, Laurent Chouchana, Georgia Malamut, Christine Le Beller, Denis Roche, Philippe Beaune, Patrice Degoulet, Anita Burgun, Marie-Anne Loriot, Paul Avillach   +9 more
doaj   +1 more source

Scalable and Robust Regression Methods for Phenome-Wide Association Analysis on Large-Scale Biobank Data

Frontiers in Genetics, 2021
With the advances in genotyping technologies and electronic health records (EHRs), large biobanks have been great resources to identify novel genetic associations and gene-environment interactions on a genome-wide and even a phenome-wide scale.
Wenjian Bi, Wenjian Bi, Wenjian Bi, Seunggeun Lee   +3 more
doaj   +1 more source

Heart rate phase is an indicator of chronotype-relevant circadian shifts associated with human disease: an All of Us Research Program analysis. [PDF]

J Physiol
Abstract figure legend Heart rate phase (HRP) was quantified from wearable‐derived heart rate measurements. Earlier HRP was associated with pregnancy‐associated conditions, while later HRP was associated with addiction and mood, metabolic, and sleep‐related disorders in a phenome‐wide analysis.
Chan ZM, Patel PP, Levitsky GM, McClung CA, Nouraie SM, Kelly NJ.   +5 more
europepmc   +2 more sources

Repurposing drugs to target nonalcoholic steatohepatitis [PDF]

, 2019
Nonalcoholic fatty liver disease (NAFLD) is a complex disorder that has evolved in recent years as the leading global cause of chronic liver damage.
Pirola, Carlos José, Sookoian, Silvia Cristina   +1 more
core   +1 more source

Genome‐wide pathogenesis interpretation using a heat diffusion‐based systems genetics method and implications for gene function annotation

Molecular Genetics & Genomic Medicine, 2020
Background Genetics is best dedicated to interpreting pathogenesis and revealing gene functions. The past decade has witnessed unprecedented progress in genetics, particularly in genome‐wide identification of disorder variants through Genome‐Wide ...
Yuan Quan, Qing‐Ye Zhang, Bo‐Min Lv, Rui‐Feng Xu, Hong‐Yu Zhang   +4 more
doaj   +1 more source

A data-driven approach for studying the role of body mass in multiple diseases: a phenome-wide registry-based case-control study in the UK Biobank [PDF]

, 2019
Background Mendelian randomisation allows for the testing of causal effects in situations where clinical trials are challenging to do. In this hypothesis-free, data-driven phenome-wide association study (PheWAS), we sought to assess possible ...
Biener, Bowden, Burgess, Burgess, Burgess, Bycroft, Chaker, Chiolero, Cronin, Davies, Denny, Dixon, Gkatzionis, Hartwig, Hemani, Kulkarni, Lau, Locke, Michailidou, Millard, Nyberg, Panoutsopoulou, Ruhl, Schoemaker, Sudlow, Sun, Todd, Tyrrell, Verbanck, Verma, Wills, Xu   +31 more
core   +1 more source