Is the DNA Sequence the Gold Standard in Genetic Testing? Quality of Molecular Genetic Tests Assessed

Bakker, Egbert

doi:10.1373/clinchem.2005.066068

Cited by 44 publications

(23 citation statements)

References 9 publications

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“…Genomic DNA (gDNA) is considered the most important analyte in genetic testing [1]. The complexity of tests performed on gDNA ranges from low to high complexity, including sophisticated tests such as Chromosomal Microarray analysis and Next-Generation sequencing [1].…”

Section: Introductionmentioning

confidence: 99%

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Quantitative analysis of genomic DNA degradation in whole blood under various storage conditions for molecular diagnostic testing

Permenter

Ishwar

Rounsavall

et al. 2015

Molecular and Cellular Probes

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Section: Introductionmentioning

confidence: 99%

“…The complexity of tests performed on gDNA ranges from low to high complexity, including sophisticated tests such as Chromosomal Microarray analysis and Next-Generation sequencing [1]. However, guidelines for storage and handling of specimens for gDNA isolation in the clinical lab are lacking.…”

Section: Introductionmentioning

confidence: 99%

Quantitative analysis of genomic DNA degradation in whole blood under various storage conditions for molecular diagnostic testing

Permenter

Ishwar

Rounsavall

et al. 2015

Molecular and Cellular Probes

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“…Sequencing is considered to be the "gold standard" method for the identification of known as well as un specified variants in the genomic DNA. In accordance with the previous statement, the Sanger or NextGen eration Sequencing (NGS) techniques can be used (15,16). The concept behind these two methods is similar.…”

Section: From Variant Detection To Func-tional Genome Analysismentioning

confidence: 87%

The most common technologies and tools for functional genome analysis

Gasperskaja¹,

Kučinskas²

2017

AML

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Since the sequence of the human genome is complete, the main issue is how to understand the information written in the DNA se quence. Despite numerous genomewide studies that have already been performed, the challenge to determine the function of genes, gene products, and also their interaction is still open. As changes in the human genome are highly likely to cause pathological con ditions, functional analysis is vitally important for human health.For many years there have been a variety of technologies and tools used in functional genome analysis. However, only in the past decade there has been rapid revolutionizing progress and improvement in highthroughput methods, which are rang ing from traditional realtime polymerase chain reaction to more complex systems, such as nextgeneration sequencing or mass spectrometry. Furthermore, not only laboratory investigation, but also accurate bioinformatic analysis is required for reliable scientific results. These methods give an opportunity for accu rate and comprehensive functional analysis that involves various fields of studies: genomics, epigenomics, proteomics, and inter actomics. This is essential for filling the gaps in the knowledge about dynamic biological processes at both cellular and organis mal level. However, each method has both advantages and limita tions that should be taken into account before choosing the right method for particular research in order to ensure successful study. For this reason, the present review paper aims to describe the most frequent and widelyused methods for the comprehen sive functional analysis.

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“…The main disadvantage of the TaqMan Real-Time PCR is that the synthesis of specific probes is necessary for different sequences which increase assay labor and material costs [26]. Although direct DNA sequencing is often considered as the gold standard for DNA sequence analysis [27], it is costly, time-consuming and cumbersome [28].…”

Section: Discussionmentioning

confidence: 99%

Comparison of TaqMan Real-Time and Tetra-Primer ARMS PCR Techniques for Genotyping of Rs 8066560 Variant in Children and Adolescents with Metabolic Syndrome

Miranzadeh-Mahabadi¹,

Miranzadeh-Mahabadi²,

Nikpour³

et al. 2015

Adv Clin Exp Med

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Is the DNA Sequence the Gold Standard in Genetic Testing? Quality of Molecular Genetic Tests Assessed

Cited by 44 publications

References 9 publications

Quantitative analysis of genomic DNA degradation in whole blood under various storage conditions for molecular diagnostic testing

Quantitative analysis of genomic DNA degradation in whole blood under various storage conditions for molecular diagnostic testing

The most common technologies and tools for functional genome analysis

Comparison of TaqMan Real-Time and Tetra-Primer ARMS PCR Techniques for Genotyping of Rs 8066560 Variant in Children and Adolescents with Metabolic Syndrome

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