DeepPheWAS: an R package for phenotype generation and association analysis for phenome-wide association studies-Reference-Cited by-同舟云学术

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

Published:2023-02-06 Issue:4 Volume:39 Page:
ISSN:1367-4811
Container-title:Bioinformatics
language:en
Short-container-title:

Author:

Packer Richard J¹²^ORCID,Williams Alex T¹,Hennah William³⁴⁵,Eisenberg Micaela T⁶,Shrine Nick¹,Fawcett Katherine A¹,Pearson Willow¹,Guyatt Anna L¹^ORCID,Edris Ahmed¹⁷,Hollox Edward J⁶,Marttila Mikko³,Rao Balasubramanya S⁸,Bratty John Raymond⁸,Wain Louise V¹²,Dudbridge Frank¹^ORCID,Tobin Martin D¹²

Affiliation:

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

2. Glenfield Hospital Leicester National Institute of Health and Care Research Biomedical Research Centre, , Leicester LE5 4PW, UK

3. Orion Pharma , Espoo 02200, Finland

4. University of Helsinki Neuroscience Center, HiLIFE, , Helsinki 00100, Finland

5. University of Helsinki Institute for Molecular Medicine FIMM, HiLIFE, , Helsinki 00100, Finland

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

7. Ghent University Department of Bioanalysis, Faculty of Pharmaceutical Sciences, , Gent 9000, Belgium

8. Orion Pharma , Nottingham NG1 2GB, UK

Abstract

AbstractSummaryDeepPheWAS 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.

Funder

University of Leicester

Publisher

Oxford University Press (OUP)

Subject

Computational Mathematics,Computational Theory and Mathematics,Computer Science Applications,Molecular Biology,Biochemistry,Statistics and Probability

Link

https://academic.oup.com/bioinformatics/advance-article-pdf/doi/10.1093/bioinformatics/btad073/49101508/btad073.pdf

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