Glossary Term
Copy Number Polymorphism
Variation in the number of copies of a particular sequence within the genetic material of an individual. Large-scale copy number polymorphisms are common and widely distributed in the human genome.
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Glossary Term
Variation in the number of copies of a particular sequence within the genetic material of an individual. Large-scale copy number polymorphisms are common and widely distributed in the human genome.
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An organisation designated by an EU member state to assess the conformity of products — including in vitro diagnostics — against applicable regulations before CE marking can be affixed.
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A purification method that binds nucleic acids to a silica membrane in a spin column through centrifugation or vacuum. It is a common manual and mid-throughput format with well-understood consumable logistics, but is less automation-friendly than magnetic bead approaches.
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A relatively less common point mutation in which a purine is exchanged for a pyrimidine or a pyrimidine is exchanged for a purine.
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A measure of the variability in a sample or population. It is calculated as the mean squared deviation (MSD) of the individual values from their common mean. In calculating the MSD, the divisor n is commonly used for a population variance and the divisor n-1 for a sample variance.