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Mathematical Analysis of Copy Number Variation in a DNA Sample Using Digital PCR on a Nanofluidic Device

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  • Simant Dube
  • Jian Qin
  • Ramesh Ramakrishnan

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.

Suggested Citation

  • Simant Dube & Jian Qin & Ramesh Ramakrishnan, 2008. "Mathematical Analysis of Copy Number Variation in a DNA Sample Using Digital PCR on a Nanofluidic Device," PLOS ONE, Public Library of Science, vol. 3(8), pages 1-9, August.
    • Handle: RePEc:plo:pone00:0002876
    DOI: 10.1371/journal.pone.0002876
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    1. Wentao Chen & Hao Luo & Lihong Zeng & Yuying Pan & Jonathan B. Parr & Yinbo Jiang & Clark H. Cunningham & Kelly L. Hawley & Justin D. Radolf & Wujian Ke & Jiangli Ou & Jianjiang Yang & Bin Yang & Hepi, 2022. "A suite of PCR-LwCas13a assays for detection and genotyping of Treponema pallidum in clinical samples," Nature Communications, Nature, vol. 13(1), pages 1-11, December.
    2. Davide Cardinale & Maria Tafuro & Andrea Mancusi & Santa Girardi & Federico Capuano & Yolande Thérèse Rose Proroga & Federica Corrado & Jacopo Luigi D’Auria & Annachiara Coppola & Giuseppe Rofrano & P, 2022. "Sponge Whirl-Pak Sampling Method and Droplet Digital RT-PCR Assay for Monitoring of SARS-CoV-2 on Surfaces in Public and Working Environments," IJERPH, MDPI, vol. 19(10), pages 1-14, May.

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