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


Journal

Bioinformatics (Oxford, England)
ISSN: 1367-4811
Titre abrégé: Bioinformatics
Pays: England
ID NLM: 9808944

Informations de publication

Date de publication:
03 04 2023
Historique:
received: 30 08 2022
revised: 06 01 2023
accepted: 03 02 2023
medline: 5 4 2023
pubmed: 7 2 2023
entrez: 6 2 2023
Statut: ppublish

Résumé

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. The DeepPheWAS R package is freely available under GNU general public licence v3.0 from at https://github.com/Richard-Packer/DeepPheWAS. Supplementary data are available at Bioinformatics online.

Identifiants

pubmed: 36744935
pii: 7028485
doi: 10.1093/bioinformatics/btad073
pmc: PMC10070035
pii:
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Medical Research Council
ID : MC_PC_19004
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom

Informations de copyright

© The Author(s) 2023. Published by Oxford University Press.

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Auteurs

Richard J Packer (RJ)

Department of Population Health Sciences, University of Leicester, Leicester LE1 7RH, UK.
Leicester National Institute of Health and Care Research Biomedical Research Centre, Glenfield Hospital, Leicester LE5 4PW, UK.

Alex T Williams (AT)

Department of Population Health Sciences, University of Leicester, Leicester LE1 7RH, UK.

William Hennah (W)

Orion Pharma, Espoo 02200, Finland.
Neuroscience Center, HiLIFE, University of Helsinki, Helsinki 00100, Finland.
Institute for Molecular Medicine FIMM, HiLIFE, University of Helsinki, Helsinki 00100, Finland.

Micaela T Eisenberg (MT)

Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK.

Nick Shrine (N)

Department of Population Health Sciences, University of Leicester, Leicester LE1 7RH, UK.

Katherine A Fawcett (KA)

Department of Population Health Sciences, University of Leicester, Leicester LE1 7RH, UK.

Willow Pearson (W)

Department of Population Health Sciences, University of Leicester, Leicester LE1 7RH, UK.

Anna L Guyatt (AL)

Department of Population Health Sciences, University of Leicester, Leicester LE1 7RH, UK.

Ahmed Edris (A)

Department of Population Health Sciences, University of Leicester, Leicester LE1 7RH, UK.
Department of Bioanalysis, Faculty of Pharmaceutical Sciences, Ghent University, Gent 9000, Belgium.

Edward J Hollox (EJ)

Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK.

Mikko Marttila (M)

Orion Pharma, Espoo 02200, Finland.

Balasubramanya S Rao (BS)

Orion Pharma, Nottingham NG1 2GB, UK.

John Raymond Bratty (JR)

Orion Pharma, Nottingham NG1 2GB, UK.

Louise V Wain (LV)

Department of Population Health Sciences, University of Leicester, Leicester LE1 7RH, UK.
Leicester National Institute of Health and Care Research Biomedical Research Centre, Glenfield Hospital, Leicester LE5 4PW, UK.

Frank Dudbridge (F)

Department of Population Health Sciences, University of Leicester, Leicester LE1 7RH, UK.

Martin D Tobin (MD)

Department of Population Health Sciences, University of Leicester, Leicester LE1 7RH, UK.
Leicester National Institute of Health and Care Research Biomedical Research Centre, Glenfield Hospital, Leicester LE5 4PW, UK.

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Classifications MeSH