| Chapter title |
Detection and Quantification of Mosaic Genomic DNA Variation in Primary Somatic Tissues Using ddPCR: Analysis of Mosaic Transposable-Element Insertions, Copy-Number Variants, and Single-Nucleotide Variants
|
|---|---|
| Chapter number | 11 |
| Book title |
Digital PCR
|
| Published in |
Methods in molecular biology, January 2018
|
| DOI | 10.1007/978-1-4939-7778-9_11 |
| Pubmed ID | |
| Book ISBNs |
978-1-4939-7776-5, 978-1-4939-7778-9
|
| Authors |
Bo Zhou, Michael S. Haney, Xiaowei Zhu, Reenal Pattni, Alexej Abyzov, Alexander E. Urban, Zhou, Bo, Haney, Michael S., Zhu, Xiaowei, Pattni, Reenal, Abyzov, Alexej, Urban, Alexander E. |
| Abstract |
Here, we describe approaches using droplet digital polymerase chain reaction (ddPCR) to validate and quantify somatic mosaic events contributed by transposable-element insertions, copy-number variants, and single-nucleotide variants. In the ddPCR assay, sample or template DNA is partitioned into tens of thousands of individual droplets such that when DNA input is low, the vast majority of droplets contains no more than one copy of template DNA. PCR takes place in each individual droplet and produces a fluorescent readout to indicate the presence or absence of the target of interest allowing for the accurate "counting" of the number of copies present in the sample. The number of partitions is large enough to assay somatic mosaic events with frequencies down to less than 1%. |
X Demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 2 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 71 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 20 | 28% |
| Student > Bachelor | 10 | 14% |
| Other | 7 | 10% |
| Student > Ph. D. Student | 7 | 10% |
| Student > Master | 6 | 8% |
| Other | 7 | 10% |
| Unknown | 14 | 20% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 20 | 28% |
| Agricultural and Biological Sciences | 14 | 20% |
| Neuroscience | 3 | 4% |
| Arts and Humanities | 2 | 3% |
| Medicine and Dentistry | 2 | 3% |
| Other | 11 | 15% |
| Unknown | 19 | 27% |