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Published on: July 1, 2020
PGA: power calculator for case-control genetic association analyses
Idan Menashe1, Philip S Rosenberg, Bingshu E Chen
1Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institute of Health, Department of Health and Human Services, Rockville, MD, USA. menashei@mail.nih.gov
Researchers developed user-friendly software, Power for Genetic Association analyses (PGA), to calculate sample size and power for genetic studies. This tool aids in designing and interpreting case-control studies involving single nucleotide polymorphisms (SNPs).
Area of Science:
- Genetics
- Biostatistics
- Computational Biology
Background:
- Statistical power is crucial for genetic association studies.
- Existing tools often lack specific features for case-control SNP studies.
- Unrelated subjects are common in genetic association analyses.
Purpose of the Study:
- To develop user-friendly software for power calculations in genetic association studies.
- To provide tools for sample size and minimum detectable risk estimation.
- To support various genetic models and study constraints.
Main Methods:
- Developed the "Power for Genetic Association analyses" (PGA) package.
- Integrated algorithms and graphical user interfaces.
- Accounted for linkage disequilibrium and multiple comparisons.
Main Results:
- PGA enables sample size and minimum detectable risk calculations.
- The software supports SNP or haplotype effects under different genetic models.
- Results are exportable in standard formats and visualized in graphs/tables.
Conclusions:
- PGA is a user-friendly software solution.
- Facilitates decision-making for candidate gene, fine-mapping, and whole-genome scans.
- Available as stand-alone executables and a Matlab toolbox.
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