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

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posted on 2024-03-21, 15:48 authored by Richard PackerRichard Packer, Alex T Williams, William Hennah, Micaela T Eisenberg, Nick Shrine, Katherine A Fawcett, Willow Pearson, Anna L Guyatt, Ahmed Edris, Ed HolloxEd Hollox, Mikko Marttila, Balasubramanya S Rao, John Raymond Bratty, Louise V Wain, Frank DudbridgeFrank Dudbridge, Martin D Tobin

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

Funding

Institutional Strategic Support Fund

Wellcome Trust

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Accelerator Award (round 1)

British Heart Foundation

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GSK/Asthma + Lung UK Chair in Respiratory Research (C17-1)

Orion Pharma

Wellcome Trust Investigator Award WT202849/Z/16/Z

National Institute for Health and Care Research Senior Investigator Award.

History

Author affiliation

College of Life Sciences/Genetics & Genome BiologyCollege of Life Sciences/Population Health Sciences

Version

  • VoR (Version of Record)

Published in

Bioinformatics

Volume

39

Issue

4

Pagination

btad073

Publisher

Oxford University Press (OUP)

issn

1367-4803

eissn

1367-4811

Copyright date

2023

Available date

2024-03-21

Editors

Schwartz R

Spatial coverage

England

Language

en

Deposited by

Professor Ed Hollox

Deposit date

2024-03-20

Data Access Statement

The data underlying this article are available from the UK Biobank to all approved researchers https://www.ukbiobank.ac.uk/. Data were accessed under approved application 43027.

Rights Retention Statement

  • Yes

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