| Chapter title |
Analysis of Copy Number Variation Using the Paralogue Ratio Test (PRT)
|
|---|---|
| Chapter number | 8 |
| Book title |
Genotyping
|
| Published in |
Methods in molecular biology, January 2017
|
| DOI | 10.1007/978-1-4939-6442-0_8 |
| Pubmed ID | |
| Book ISBNs |
978-1-4939-6440-6, 978-1-4939-6442-0
|
| Authors |
Edward J. Hollox, Hollox, Edward J. |
| Abstract |
Copy number variation (CNV), where a segment of DNA differs in copy number between different individuals, is an extensive and often underappreciated source of genetic variation within species. However, reliably determining copy number of a particular DNA sequence for a large number of samples can be challenging. Here, I describe and review the paralogue ratio test (PRT) in detail. PRT was developed to robustly type the CNV of the beta-defensin locus using small amounts of genomic DNA in a high-throughput manner, and has been applied successfully at many other loci. I discuss the strategies for designing successful PRT assays using both manual and bioinformatics methods, how to optimize experimental conditions, and approaches for analyzing the data. I discuss strengths and weaknesses of the approach, and how to troubleshoot results, as well as the range of problems to which PRT can be a potential solution. |
Mendeley readers
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Israel | 1 | 6% |
| Unknown | 17 | 94% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 3 | 17% |
| Student > Ph. D. Student | 3 | 17% |
| Student > Master | 2 | 11% |
| Student > Postgraduate | 2 | 11% |
| Researcher | 2 | 11% |
| Other | 1 | 6% |
| Unknown | 5 | 28% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 7 | 39% |
| Agricultural and Biological Sciences | 5 | 28% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 6% |
| Unknown | 5 | 28% |