Copy number variation (CNV) is a phenomenon in which parts of the genome are repeated and the number of copies in the genome varies among individuals in the human population. This type of structural variation due to duplication or suppression affects a large number of base pairs.
CNVs can generally be classified into two main groups: short repetitions and long repetitions.
Short repetitions mainly include bi-nucleotide repetitions and tri-nucleotide repetitions.
Long repetitions include whole gene repetitions, which are likely to have effects on the phenotype.
The use of dPCR allows easy detection of small changes in dilutions as well as quantification of NPCs and point mutations using monochromatic detection.
Materials to provide
Samples.
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Typical deliverables
A detailed report and raw data for publication.
Study following the specifications validated with the Expert.
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