期刊
GENOMICS
卷 101, 期 2, 页码 86-93出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ygeno.2012.10.004
关键词
Copy number variation; Next generation sequencing; Paralogue ratio test; Multiplex ligation-dependent probe amplification; Quantitative PCR; Southern blotting; Multiplex amplifiable probe hybridization
资金
- Monash University
- Translational Clinical Research in Major Eye Diseases
- National Health and Medical Research Council (Centre for Clinical Research Excellence, NHMRC Senior Research Fellowship) [529923, 1028444]
- Victorian Government's Operational Infrastructure Support Program
Genome structural variation shows remarkable complexity with respect to copy number, sequence content and distribution. While the discovery of copy number polymorphisms (CNP) has increased exponentially in recent years, the transition from discovery to genotyping has proved challenging, particularly for CNPs embedded in complex regions of the genome. CNPs that are collectively common in the population and possess a dynamic range of copy numbers have proved the most difficult to genotype in association studies. This is in some part due to technical limitations of genotyping assays and the sequence properties of the genomic region being analyzed. Here we describe in detail the basis of a number of molecular techniques used to genotype complex CNPs, compare and contrast these approaches for determination of multi-allelic copy number, and discuss the potential application of these techniques in genetic studies. (C) 2012 Elsevier Inc. All rights reserved.
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