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Updated: May 30, 2026

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Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
Detection of copy number variation using SNP genotyping
Gregory M Cooper1, Heather C Mefford
1Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA.
Methods in Molecular Biology (Clifton, N.J.)
|August 9, 2011
Summary
Human genome diversity includes single nucleotide polymorphisms (SNPs) and large copy number variants (CNVs). SNP genotyping platforms offer efficient genome-wide discovery of these important genetic variations.
Area of Science:
- Genomics
- Human Genetics
- Molecular Biology
Background:
- Human genome exhibits diversity through single nucleotide polymorphisms (SNPs) and small insertions/deletions.
- Large copy number variants (CNVs), exceeding 1 kb, represent a significant source of normal genomic variation and disease-causing alterations.
Purpose of the Study:
- To discuss the principles and strategies for detecting large copy number variants (CNVs) using SNP genotyping platforms.
- To highlight the utility of SNP genotyping platforms for both SNP and CNV analysis.
Main Methods:
- Utilizing SNP genotyping platforms for genome-wide analysis.
- Leveraging advances in array comparative genomic hybridization and SNP genotyping technologies.
Main Results:
- SNP genotyping platforms are effective tools for the discovery of large copy number variants (CNVs).
- These platforms provide integrated SNP and CNV genotyping information.
Conclusions:
- SNP genotyping platforms are versatile and widely used for identifying both SNPs and CNVs.
- Advances in technology facilitate comprehensive analysis of human genomic variation.
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