ukbtools

ukbtools provides functions for managing, querying, and preparing UK Biobank data for epidemiological and genomic analyses.

Key Features:

• Data integration and wrangling: Automates merging of disparate UK Biobank data files into a single cohesive dataset and replaces numerical-coded column names with descriptive identifiers.
• Quality control and demographic exploration: Implements functions to assess and summarize primary demographic characteristics within participant subsets to support quality-control workflows.
• Disease diagnosis querying: Enables querying of disease diagnoses across individuals and estimation of disease frequency relative to a reference variable.
• Genetic metadata management: Provides functions to retrieve, explore, and write genetic metadata to files for genomic analyses.

Scientific Applications:

• Epidemiological research: Supports analysis of disease prevalence and risk-factor associations using integrated UK Biobank phenotypic data.
• Genomic studies: Facilitates management and export of genetic metadata for use in genomic analyses of disease-related variants.
• Public health research: Enables large-scale analyses of population health measures using harmonized UK Biobank datasets.

Methodology:

Automated merging of UK Biobank files, replacement of numerical column codes with descriptive variable names, functions for demographic summarization and quality control, querying and frequency estimation of disease diagnoses, and retrieval and writing of genetic metadata.