Software application profile: PHESANT: A tool for performing automated phenome scans in UK Biobank

Louise A.C. Millard*, Neil M. Davies, Tom R. Gaunt, George Davey Smith, Kate Tilling

*Corresponding author for this work

Research output: Contribution to journalArticle (Academic Journal)peer-review

123 Citations (Scopus)
348 Downloads (Pure)

Abstract

Motivation: Epidemiological cohorts typically contain a diverse set of phenotypes such that automation of phenome scans is non-trivial, because they require highly heterogeneous models. For this reason, phenome scans have to date tended to use a smaller homogeneous set of phenotypes that can be analysed in a consistent fashion. We present PHESANT (PHEnome Scan ANalysis Tool), a software package for performing comprehensive phenome scans in UK Biobank. General features: PHESANT tests the association of a specified trait with all continuous, integer and categorical variables in UK Biobank, or a specified subset. PHESANT uses a novel rule-based algorithm to determine how to appropriately test each trait, then performs the analyses and produces plots and summary tables. Implementation: The PHESANT phenome scan is implemented in R. PHESANT includes a novel Javascript D3.js visualization and accompanying Java code that converts the phenome scan results to the required JavaScript Object Notation (JSON) format. Availability: PHESANT is available on GitHub at [https://github.com/MRCIEU/PHESANT]. Git tag v0.5 corresponds to the version presented here.

Original languageEnglish
Article numberdyx218
Pages (from-to)29-35
Number of pages7
JournalInternational Journal of Epidemiology
Volume47
Issue number1
Early online date6 Oct 2017
DOIs
Publication statusPublished - 1 Feb 2018

Research Groups and Themes

  • Jean Golding

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