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Abstract: Copy Number Variations CNVs of regions of the human genome are important indisease association studies.The digital array is a nanofluidic biochip whichutilizes integrated channels and valves that partition mixtures of sample andreagents into 765 nanovolume reaction chambers. It was recently shown how onecan perform statistical analysis of CNV in a DNA sample the digital array. Inparticular, it was shown how one can accurately estimate the true concentrationof the molecules in the DNA sample and then determine the ratios of differentsequences along with statistical confidence intervals on these estimations. Inthis paper we perform computation of maximum number of copies which can bedistinguished using the digital array which gives its resolution in terms ofits ability to determine CNV. Then, we demonstrate the usefulness of themathematical analysis to solve an important real-world problem of determinationof the copy number of X chromosome as our example application.



Autor: Simant Dube, Alain Mir, Robert C. Jones, Ramesh Ramakrishnan, Gang Sun

Fuente: https://arxiv.org/







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