Copy Number Variation Analysis by Droplet Digital PCR.

Szczegóły
Abstrakt

Tytuł:: Copy Number Variation Analysis by Droplet Digital PCR.
Autorzy:: Härmälä SK; MRC International Nutrition Group, London School of Hygiene & Tropical Medicine, London, UK.
Butcher R; Department of Clinical Research, London School of Hygiene & Tropical Medicine, London, UK.
Roberts CH; Department of Clinical Research, London School of Hygiene & Tropical Medicine, London, UK. .
Źródło:: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2017; Vol. 1654, pp. 135-149.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
Język:: English
Imprint Name(s):: Publication: Totowa, NJ : Humana Press
Original Publication: Clifton, N.J. : Humana Press,
MeSH Terms:: DNA Copy Number Variations/*genetics
Polymerase Chain Reaction/*methods
Genotype ; Haptoglobins/genetics ; Humans
Grant Information:: MC-A760-5QX00 United Kingdom Medical Research Council; BB/M009513/1 United Kingdom Biotechnology and Biological Sciences Research Council; 098521/B/12/Z United Kingdom Wellcome Trust; 105609/Z/14/Z United Kingdom Wellcome Trust
Contributed Indexing:: Keywords: CNV; Copy number variation; Droplet digital PCR; Genotyping; HP; Haptoglobin; ddPCR
Substance Nomenclature:: 0 (Haptoglobins)
Entry Date(s):: Date Created: 20171008 Date Completed: 20180611 Latest Revision: 20180820
Update Code:: 20240105
DOI:: 10.1007/978-1-4939-7231-9_9
PMID:: 28986787
: Czasopismo naukowe

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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