Mathematical Analysis of Copy Number Variation in a DNA Sample Using Digital PCR on a Nanofluidic Device
Open Access
- 6 August 2008
- journal article
- research article
- Published by Public Library of Science (PLoS) in PLOS ONE
- Vol. 3 (8), e2876
- https://doi.org/10.1371/journal.pone.0002876
Abstract
Copy Number Variations (CNVs) of regions of the human genome have been associated with multiple diseases. We present an algorithm which is mathematically sound and computationally efficient to accurately analyze CNV in a DNA sample utilizing a nanofluidic device, known as the digital array. This numerical algorithm is utilized to compute copy number variation and the associated statistical confidence interval and is based on results from probability theory and statistics. We also provide formulas which can be used as close approximations.Keywords
This publication has 17 references indexed in Scilit:
- High Throughput Gene Expression Measurement with Real Time PCR in a Microfluidic Dynamic ArrayPLOS ONE, 2008
- Intracellular expression profiles measured by real-time PCR tomography in the Xenopus laevis oocyteNucleic Acids Research, 2007
- Digital PCR for the molecular detection of fetal chromosomal aneuploidyProceedings of the National Academy of Sciences of the United States of America, 2007
- New Perspectives for the Elucidation of Genetic DisordersAmerican Journal of Human Genetics, 2007
- Genomic rearrangements and sporadic diseaseNature Genetics, 2007
- Methods and strategies for analyzing copy number variation using DNA microarraysNature Genetics, 2007
- A Comprehensive Analysis of Common Copy-Number Variations in the Human GenomeAmerican Journal of Human Genetics, 2007
- Global variation in copy number in the human genomeNature, 2006
- Detection of large-scale variation in the human genomeNature Genetics, 2004
- Handbook of Parametric and Nonparametric Statistical ProceduresThe American Statistician, 1997