ukbtools: An R package to manage and query UK Biobank data

被引:33
作者
Hanscombe, Ken B. [1 ]
Coleman, Jonathan R., I [2 ]
Traylor, Matthew [3 ]
Lewis, Cathryn M. [1 ,2 ]
机构
[1] Kings Coll London, Dept Med & Mol Genet, London, England
[2] Kings Coll London, Social Genet & Dev Psychiat Ctr, London, England
[3] Univ Cambridge, Dept Clin Neurosci, Cambridge, England
来源
PLOS ONE | 2019年 / 14卷 / 05期
关键词
D O I
10.1371/journal.pone.0214311
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Introduction The UK Biobank (UKB) is a resource that includes detailed health-related data on about 500,000 individuals and is available to the research community. However, several obstacles limit immediate analysis of the data: data files vary in format, may be very large, and have numerical codes for column names. Results ukbtools removes all the upfront data wrangling required to get a single dataset for statistical analysis. All associated data files are merged into a single dataset with descriptive column names. The package also provides tools to assist in quality control by exploring the primary demographics of subsets of participants; query of disease diagnoses for one or more individuals, and estimating disease frequency relative to a reference variable; and to retrieve genetic metadata. Conclusion Having a dataset with meaningful variable names, a set of UKB-specific exploratory data analysis tools, disease query functions, and a set of helper functions to explore and write genetic metadata to file, will rapidly enable UKB users to undertake their research.
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页数:6
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