CNVs

CNVs: non-homologous recombination

During DNA synthesis To further deepen the topic of CNVs formation: beyond evolution, we’ll now go into non-homologous recombination. Non-homologous recombination is a DNA repair mechanism which is not based on homology principles. There are two types of non-homologous recombination: replicative and non-replicative. Non-homologous recombination is the basis of non-recurrent CNVs. Most pathogenic microduplications and microdeletions are rare non-recurrent CNVs. Non-recurrent CNVs are: preferentially located

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CNVs: NAHR (Non Allelic Homologous Recombination)

ON DIFFERENT ALLELES Expanding the topic about CNVs formation: beyond evolution, it is necessary to talk about NAHR: NAHR (Non Allelic Homologous Recombination) Homologous recombination (HR) guides the exchange of genomic material during the meiosis contributing to human inter individual variation. HR takes place between two allelic homologous regions (e.g. between two regions located at the

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CNVs databases

STORING IMBALANCES Due to the amount and complexity of information relating to Copy Number Variations (CNVs), the scientific community felt the need to organize all available data, and future submissions, into open-source online repositories. Luckily, some of these resources are reciprocally synchronized, so that conflicting information is reduced to the minimum. The most important CNVs

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CNVs: a universe of variations

Defning CNVs Genetic variants of the human genome can differ very much in size. From the smallest ones (variants affecting on single nucleotide: Single Nucleotide Variations – SNVs) to the largest ones (variants affecting the shape and number of an entire chromosome), everything can stay in the middle. Variants comprised between 1,000 bp (1Kb) and

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