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Updated: Jul 18, 2026
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Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
Gene copy number detection in animal studies
Gerli Pielberg1, Leif Andersson
1Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Methods in Molecular Biology (Clifton, N.J.)
|December 23, 2006
Summary
Pyrosequencing offers a sensitive method for DNA fragment quantification. This technique aids in studying genome duplication, heterogeneous DNA samples, and genetic variations like pig coat color.
Area of Science:
- Genetics
- Molecular Biology
- Bioinformatics
Background:
- Accurate quantification of DNA fragments is crucial for genetic studies.
- Applications include analyzing genome duplication and heterogeneous DNA samples.
- Existing methods may lack sensitivity for certain applications.
Purpose of the Study:
- To present Pyrosequencing as a sensitive method for DNA fragment quantification.
- To demonstrate its utility in analyzing sperm sex ratio and gene copy number.
- To investigate genetic variation at the KIT locus in pigs.
Main Methods:
- Utilizing Pyrosequencing for precise DNA fragment quantification.
- Developing a method to determine the relative proportion of X- and Y-carrying sperm.
- Applying the method to ascertain copy numbers at duplicated loci.
Main Results:
- Successfully quantified DNA fragments with high sensitivity.
- Quantified the proportion of X- and Y-carrying sperm in cattle.
- Determined copy numbers at a duplicated locus, applied to pig KIT locus variation.
Conclusions:
- Pyrosequencing is a versatile and sensitive tool for DNA quantification.
- The developed methods are applicable to diverse genetic research areas.
- This approach facilitates the study of genetic variation impacting traits like coat color.
