Results 21 to 30 of about 197,703 (204)

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 ...
Lijuan Wang, Xiaomeng Zhang, Xiangrui Meng, F. Koskeridis, Andrea N Georgiou, Lili Yu, H. Campbell, E. Theodoratou, Xue Li   +8 more
semanticscholar   +3 more sources

Application of clinical text data for phenome-wide association studies (PheWASs). [PDF]

Bioinformatics, 2015
Abstract Motivation: Genome-wide association studies (GWASs) are effective for describing genetic complexities of common diseases. Phenome-wide association studies (PheWASs) offer an alternative and complementary approach to GWAS using data embedded in the electronic health record (EHR) to define the phenome. International Classification
Hebbring SJ, Rastegar-Mojarad M, Ye Z, Mayer J, Jacobson C, Lin S.   +5 more
europepmc   +5 more sources

SAIGE-GPU: accelerating genome- and phenome-wide association studies using GPUs. [PDF]

Bioinformatics
Motivation Genome-wide association studies (GWAS) at biobank scale are computationally intensive, especially for admixed populations requiring robust statistical models. SAIGE is a widely used method for generalized linear mixed-model GWAS but is limited
Rodriguez A, Kim Y, Nandi TN, Keat K, Kumar R, Conery M, Bhukar R, Liu M, Hessington J, Maheshwari K, VA Million Veteran Program , Begoli E, Tourassi G, Muralidhar S, Natarajan P, Voight BF, Cho K, Gaziano JM, Damrauer SM, Liao KP, Zhou W, Huffman JE, Verma A, Madduri RK.   +23 more
europepmc   +2 more sources

Leveraging Genome and Phenome-Wide Association Studies to Investigate Genetic Risk of Acute Lymphoblastic Leukemia. [PDF]

Cancer Epidemiol Biomarkers Prev, 2020
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, Vijayakrishnan J, Zhang C, Hurst JH, Houlston RS, Walsh KM.   +5 more
europepmc   +2 more sources

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

medRxiv, 2022
Summary: Deep-PheWAS is a platform 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 ...
Packer R, Williams A, Hennah W, Eisenberg M, Fawcett K, Pearson W, Guyatt A, Edris A, Hollox E, Rao B, Bratty J, Wain L, Dudbridge F, Tobin M.   +13 more
europepmc   +2 more sources

Phenome-Wide Association Studies: Leveraging Comprehensive Phenotypic and Genotypic Data for Discovery. [PDF]

Curr Genet Med Rep, 2015
With the large volume of clinical and epidemiological data being collected, increasingly linked to extensive genotypic data, coupled with expanding high-performance computational resources, there are considerable opportunities for comprehensively exploring the networks of connections that exist between the phenome and the genome.
Pendergrass SA, Ritchie MD.
europepmc   +5 more sources

Constructing genotype and phenotype network helps reveal disease heritability and phenome-wide association studies [PDF]

BMC Genomics
Background Analyses of a bipartite Genotype and Phenotype Network (GPN), linking the genetic variants and phenotypes based on statistical associations, provide an integrative approach to elucidate the complexities of genetic relationships across diseases
Xuewei Cao, Lirong Zhu, Xiaoyu Liang, Shuanglin Zhang, Qiuying Sha   +4 more
doaj   +2 more sources

Unbiased Phenome-Wide Association Studies of Red Cell Distribution Width Identifies Key Associations with Pulmonary Hypertension. [PDF]

Ann Am Thorac Soc, 2019
Rationale: Red cell distribution width (RDW) is a prognostic factor in many diseases; however, its clinical utility remains limited because the relative value of RDW as a biomarker across disease states has not been established.
Thayer TE, Huang S, Levinson RT, Farber-Eger E, Assad TR, Huston JH, Mosley JD, Wells QS, Brittain EL.   +8 more
europepmc   +2 more sources

Phenome-Wide Association Studies Uncover a Novel Association of Increased Atrial Fibrillation in Male Patients With Systemic Lupus Erythematosus. [PDF]

Arthritis Care Res (Hoboken), 2018
Phenome‐wide association studies (PheWAS) scan across billing codes in the electronic health record (EHR) and re‐purpose clinical EHR data for research. In this study, we examined whether PheWAS could function as an EHR‐based discovery tool for systemic ...
Barnado A, Carroll RJ, Casey C, Wheless L, Denny JC, Crofford LJ.   +5 more
europepmc   +2 more sources

Phenome-Wide Association Studies: Embracing Complexity for Discovery [PDF]

Human Heredity, 2015
The inherent complexity of biological systems can be leveraged for a greater understanding of the impact of genetic architecture on outcomes, traits, and pharmacological response.
S. Pendergrass, A. Verma, Anna Okula, M. Hall, D. Crawford, M. Ritchie   +5 more
semanticscholar   +3 more sources