Microarrays in Diagnostics and Biomarker Development: by Bertrand Jordan (auth.), Bertrand Jordan (eds.)

By Bertrand Jordan (auth.), Bertrand Jordan (eds.)

Microarray expertise has made robust growth over the last decade, and there have additionally been major alterations in software components, from nucleic acids to proteomics and from learn to medical functions. This e-book offers a entire evaluation of microarrays in diagnostics and biomarker improvement, overlaying DNA, peptide, protein and tissue arrays. the point of interest is on entities which are in real medical use, or fairly shut, and on contemporary advancements, akin to peptide and aptamer arrays. a different subject is the miniaturisation in the direction of “nanoarrays”, that's anticipated to have nice capability in medical purposes. appropriate problems with bioinformatics and statistical research of array information are mentioned intimately, in addition to the obstacles to the commercialisation of array-based checks and the vexing IP matters concerned. therefore, the booklet will be very important tor lively array clients in addition to to novices looking to make the best option among diversified technologies.

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In summary, complex genotyping arrays have indeed found significant applications in clinical practice. As emphasised previously, they are generally building on previously established correlations between DNA sequences and disease and usually do not require further investigation on clinical validity and utility, although the CYP450 case shows that this can still be an issue. As discussed below, they are likely to face strong competition from high-throughput sequencing in the near future, especially since their cost is relatively high, often in the €1,000–3,000 range.

It has obtained CE-IVD status but is not FDA-approved at this time. Another type of simple array is directed at identifying a limited set of possible mutations in a particular human gene. A major case here is the CFTR gene responsible (when mutated) for cystic fibrosis, a disease for which the carrier frequency approaches 1/20 in Western populations and that represents approximately 20% of the microarray diagnostics market. For this disease, in addition to the major deltaF501 mutation, a number of other mutations present in the population at significant levels have been described (Moskowitz et al.

To overcome this limitation of the SNP-array platforms, manufacturers have introduced probe set specifically designed for the detection of CNV. These probes are nonpolymorphic reporters specially designed for the detection of CNV, resulting in more even probe coverage for the detection of copy number alterations. 8 million markers are dedicated to CNV detection. For the interpretation of SNP-array, a panel of reference normal sample profile needs to be collected. To reach a firm conclusion on the SNP heterozygosity state of acquired genomic alterations, the use of both tumour- and normal tissue-derived DNA is necessary.

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