Copy Number Variation Analysis by Droplet Digital PCR

  • Suvi K. Härmälä
  • Robert Butcher
  • Chrissy H. Roberts
Part of the Methods in Molecular Biology book series (MIMB, volume 1654)


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.

Key words

Droplet digital PCR ddPCR Copy number variation CNV Genotyping Haptoglobin HP 



This work was supported by the UK Medical Research Council (MRC) and the UK Department for International Development (DFID) under the MRC/DFID Concordat agreement (MC-A760-5QX00). Further funding was provided by the UK Biotechnology and Biological Sciences Research Council (BBSRC BB/M009513/1 to SKH). We thank BJ Hennig for access MRC Keneba Biobank (The Gambia) samples and data, and special thanks to all participants and staff at MRC Keneba, The Gambia. RB is supported by the Wellcome Trust (098521/B/12/Z). ChR is supported by the Wellcome Trust Institutional Strategic Support Fund (105609/Z/14/Z).


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Copyright information

© Springer Science+Business Media LLC 2017

Authors and Affiliations

  • Suvi K. Härmälä
    • 1
  • Robert Butcher
    • 2
  • Chrissy H. Roberts
    • 2
  1. 1.MRC International Nutrition GroupLondon School of Hygiene & Tropical MedicineLondonUK
  2. 2.Department of Clinical ResearchLondon School of Hygiene & Tropical MedicineLondonUK

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