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Methods Mol Biol DOI:10.1007/978-1-4939-7778-9_9

Analyzing Copy Number Variation with Droplet Digital PCR.

Publication TypeJournal Article
Year of Publication2018
AuthorsBell, ADavis, Usher, CL, McCarroll, SA
JournalMethods Mol Biol
Date Published2018
KeywordsBiological Variation, Individual, Biological Variation, Population, DNA, DNA Copy Number Variations, Gene Dosage, Humans, Polymerase Chain Reaction

Many genomic segments vary in copy number among individuals of the same species, or between cancer and normal cells within the same person. Correctly measuring this copy number variation is critical for studying its genetic properties, its distribution in populations and its relationship to phenotypes. Droplet digital PCR (ddPCR) enables accurate measurement of copy number by partitioning a PCR reaction into thousands of nanoliter-scale droplets, so that a genomic sequence of interest-whose presence or absence in a droplet is determined by end-point fluorescence-can be digitally counted. Here, we describe how we analyze copy number variants using ddPCR and review the design of effective assays, the performance of ddPCR with those assays, the optimization of reactions, and the interpretation of data.


Alternate JournalMethods Mol Biol
PubMed ID29717442
Grant ListR01 HG006855 / HG / NHGRI NIH HHS / United States