Context: As many as 75% of patients with polycystic ovary syndrome (PCOS) are estimated tobe unidentified in clinical practice. Objective: Utilizing polygenic risk prediction, we aim to identify the phenome-widecomorbidity patterns characteristic of PCOS
Lea Karatheodoris Davis +2 more
exaly +5 more sources
DeepPheWAS: an R package for phenotype generation and association analysis for phenome-wide association studies. [PDF]
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 ...
Packer RJ +15 more
europepmc +6 more sources
FM-GPT: Bayesian fine mapping for phenome-wide transcriptome-wide association studies. [PDF]
Transcriptome-wide association studies (TWAS) integrate genome wide association studies with expression quantitative trait locus reference panels to identify genes associated with traits of interest.
Travis Canida +7 more
doaj +2 more sources
Maturation and application of phenome-wide association studies [PDF]
Dana Crawford, Shiying Liu
exaly +2 more sources
Leveraging Genome and Phenome-Wide Association Studies to Investigate Genetic Risk of Acute Lymphoblastic Leukemia. [PDF]
BACKGROUND: Genome-wide association studies (GWAS) of childhood cancers remain limited, highlighting the need for novel analytic strategies. We describe a hybrid GWAS and phenome-wide association study (PheWAS) approach to uncover genotype-phenotype ...
Semmes EC +5 more
europepmc +2 more sources
Phenome-Wide Association Studies as a Tool to Advance Precision Medicine [PDF]
Joshua C. Denny +2 more
exaly +2 more sources
Refining Genetic Instruments for Dietary Intake Mendelian Randomization Using Phenome-Wide Association Studies. [PDF]
ABSTRACT Most Mendelian randomization (MR) of dietary intake use the full set of genome‐wide significant (GWS) variants in the instrumental variable (IV), likely biasing causal estimates due to pleiotropy. To characterize the common methods to handle pleiotropy in dietary intake MR, we conducted a scoping review of the literature on dietary intake MR ...
Sutton KJ +7 more
europepmc +2 more sources
Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome [PDF]
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.
Yu, Dongmei K. +73 more
core +11 more sources
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 +4 more
doaj +1 more source
The challenges, advantages and future of phenome-wide association studies [PDF]
Scott Hebbring
exaly +2 more sources

