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

SUMMARY: 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 and drug response phenotypes. Tools are...

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Detalles Bibliográficos
Autores principales: Packer, Richard J, Williams, Alex T, Hennah, William, Eisenberg, Micaela T, Shrine, Nick, Fawcett, Katherine A, Pearson, Willow, Guyatt, Anna L, Edris, Ahmed, Hollox, Edward J, Marttila, Mikko, Rao, Balasubramanya S, Bratty, John Raymond, Wain, Louise V, Dudbridge, Frank, Tobin, Martin D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Applications Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10070035/
https://www.ncbi.nlm.nih.gov/pubmed/36744935
http://dx.doi.org/10.1093/bioinformatics/btad073
Descripción
Sumario:SUMMARY: 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 and drug response phenotypes. Tools are provided for efficient analysis of association with any genetic input, under any genetic model, with optional sex-stratified analysis, and for developing novel phenotypes. AVAILABILITY AND IMPLEMENTATION: The DeepPheWAS R package is freely available under GNU general public licence v3.0 from at https://github.com/Richard-Packer/DeepPheWAS. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

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