Copy Number Variation Analysis by Droplet Digital PCR.
SK Härmälä;
R Butcher;
CH Roberts;
(2017)
Copy Number Variation Analysis by Droplet Digital PCR.
In: UNSPECIFIED, (ed.)
Methods Mol Biol.
Humana Press, pp. 135-149.
ISBN 1940-6029
DOI: 10.1007/978-1-4939-7231-9_9
The health impact of many copy number variants in our genome remains still largely to be discovered. Detecting and genotyping this often complex variation presents a technical challenge. Here we describe a 96-well format droplet digital PCR (ddPCR) protocol for genotyping a common copy variant in the human haptoglobin gene. ddPCR allows for high-throughput and accurate quantitation of gene copy numbers.
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