CNV

CNV analysis: a chimera?

[siteorigin_widget class=”WP_Widget_Media_Video”][/siteorigin_widget] CNV analysis based on NGS data: has the dream come true? The term Copy Number Variations (CNVs) is traditionally referring to intermediate-scale large deletions/duplications of 1 kb to 5 kb in size. However, in practice, when the analysis is based on data from Next Generation Sequencing (NGS), CNV is used every day more

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Small and large mutations: how do we sail among different mutation sizes?

How large can a mutation be? Genetic variations in the human genome can differ very much in size. Starting from the smallest mutations possible, the SNV (single nucleotide variation), up to the deletion of an entire chromosome, you can find mutations of every size in the middle! The vast majority of pathogenic mutations are SNVs

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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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