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09:45
Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
Statistical issues in the analysis of DNA Copy Number Variations
Nathan E Wineinger1, Richard E Kennedy, Stephen W Erickson
1Department of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA. nwineing@uab.edu
International Journal of Computational Biology and Drug Design
|September 24, 2009
Summary
Copy number variation (CNV) genotyping technology is advancing, but analyzing this genetic data for association studies requires careful consideration. This work outlines key steps for processing and analyzing CNV data, from platform choice to statistical analysis.
Area of Science:
- Genetics
- Bioinformatics
- Genomic analysis
Background:
- Copy number variation (CNV) detection technologies have rapidly advanced.
- CNV data is increasingly integrated into genetic studies.
- Standardized methods for analyzing CNV data in association studies are needed.
Purpose of the Study:
- To provide a comprehensive overview of CNV data processing and analysis.
- To guide researchers in utilizing CNV data for association analyses.
- To discuss available options for each step of the CNV analysis pipeline.
Main Methods:
- Selection of appropriate genotyping platforms.
- Normalization techniques for array data.
- Evaluation of different CNV calling algorithms.
- Statistical analysis methodologies for CNV data.
Main Results:
- Detailed breakdown of choices in CNV data analysis.
- Consideration of genotyping platform, data normalization, calling algorithms, and statistical methods.
- Framework for reproducible CNV association studies.
Conclusions:
- Effective analysis of CNV data requires careful planning of the entire pipeline.
- Understanding the options for each analytical step is crucial for robust genetic association studies.
- Further discussion and standardization of CNV analysis methods will enhance their utility in genetic research.
Keywords:
CBSDNAGWASarray CGHcalling algorithmcircular binary segmentationcomplex disorderscopy numbergenome-wide association studyhidden Markov modelmicroarraynormalizationwhole genome amplificationMore Related Videos
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