Abstract
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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Acknowledgments
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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Härmälä, S.K., Butcher, R., Roberts, C.H. (2017). Copy Number Variation Analysis by Droplet Digital PCR. In: Kaufmann, M., Klinger, C., Savelsbergh, A. (eds) Functional Genomics. Methods in Molecular Biology, vol 1654. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-7231-9_9
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DOI: https://doi.org/10.1007/978-1-4939-7231-9_9
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