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Molecular Cytogenetics
Article . 2014 . Peer-reviewed
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Molecular Cytogenetics
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The advantages of SNP arrays over CGH arrays

Authors: Boris Keren;

The advantages of SNP arrays over CGH arrays

Abstract

In recent years, with the rapid development of Chromosomal Micro-array Analysis (CMA), the resolution limit of 5Mb which was imposed by conventional cytogenetics, has been significantly lowered. Currently, array CGH is the most widely used CMA technology. With the inclusion of thousands to millions of probes, it allows the detection of small copy number variations (CNVs) of a few kb. SNP (Single Nuleotide Polymorphism) arrays can also be used for CMA. They too enable the detection of CNVs, but unlike array CGH, each probe is located at an SNP and can determine the genotype of the corresponding SNP. Here, we report on our 6 years experience of the use of SNP arrays in cytogenetic diagnosis on more than 3000 patients and we will focus on the main benefits of SNP arrays over array CGH. Because of their ability to perform SNP genotyping, SNP arrays can detect long contiguous stretches of heterozygosity (LCSH). LCSH have 2 main interests: 1) they can detect uniparental isodisomies (UPD); 2) they can detect genetic identity by descent. UPD can be responsible for imprinting disorders and both UPD and identity by descent is associated withpromote the occurrence of autosomal recessive disorders. Moreover LCSH analysis allows performing homozygosity mapping and helping guide sequencing of candidate genes responsible for recessive conditions. Because of an abnormal number of different alleles, SNP arrays also enable the detection of polyploidy and chimerism. Besides, SNP arrays also are of interest in quality control: they can detect DNA contamination and false paternity. Thus, while array CGH is still a very efficient technique to detect CNVs, the inclusion of SNP probes in arrays is desirable when possible.

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Keywords

Biochemistry, medical, Genetics, Molecular Medicine, Genetics(clinical), Speaker Presentation, Biochemistry, Molecular Biology

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
7
Average
Average
Average
Green
gold