trio
trio provides functions in R within the Bioconductor ecosystem for analysis of case-parent trio genetic data, including computation of linkage disequilibrium measures, genotype imputation, simulation of SNP-interaction disease risk, setup of matched case pseudo-control data for logic regression, and power and sample-size calculations.
Key Features:
- Linkage Disequilibrium (LD) Analysis: Computes pairwise LD measures and identifies LD blocks to delineate genomic regions with high linkage.
- Trio Logic Regression Setup: Constructs matched case pseudo-control genotype data specifically for case-parent trios to support logic regression analyses.
- Genotype Imputation: Imputes missing genotypes in trio datasets to improve data completeness for downstream analyses.
- Simulation of Case-Parent Trios: Simulates case-parent trios with disease risk models that depend on SNP interactions.
- Power and Sample Size Calculation: Performs power and sample size calculations tailored to trio study designs.
Scientific Applications:
- Family-based genetic association studies: Supports analysis of case-parent trios to detect genetic associations while controlling for population stratification.
- Inheritance pattern analysis: Enables investigation of transmission patterns and intra-family variant interactions.
- Simulation of genetic disease models: Facilitates generation of simulated trio datasets to evaluate SNP interaction effects on disease risk.
- Study design and power estimation: Aids in designing trio-based studies by providing power and sample-size calculations.
Methodology:
Analyses and functions are implemented in R and operate within the Bioconductor framework.
Topics
Collections
Details
- License:
- GPL-2.0
- Tool Type:
- command-line tool, library
- Operating Systems:
- Linux, Windows, Mac
- Programming Languages:
- R
- Added:
- 1/17/2017
- Last Updated:
- 11/25/2024
Operations
Publications
Huber W, Carey VJ, Gentleman R, Anders S, Carlson M, Carvalho BS, Bravo HC, Davis S, Gatto L, Girke T, Gottardo R, Hahne F, Hansen KD, Irizarry RA, Lawrence M, Love MI, MacDonald J, Obenchain V, Oleś AK, Pagès H, Reyes A, Shannon P, Smyth GK, Tenenbaum D, Waldron L, Morgan M. Orchestrating high-throughput genomic analysis with Bioconductor. Nature Methods. 2015;12(2):115-121. doi:10.1038/nmeth.3252. PMID:25633503. PMCID:PMC4509590.