Next-Generation Sequencing: From Understanding Biology to Personalized Medicine

Frese, Karen; Katus, Hugo A.; Meder, Benjamin

doi:10.3390/biology2010378

Cited by 39 publications

(26 citation statements)

References 169 publications

(191 reference statements)

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“…NGS refers to a group of technologies which have, in common, the ability to perform and capture data from millions of sequencing reactions simultaneously – also called massively parallel sequencing [3-6]. Although the various NGS platforms differ in the way they acquire data, they are all able to capture the individual sequence of hundreds of millions of molecules.…”

Section: Ngs Versus Standard Sequencing Technologiesmentioning

confidence: 99%

Next-Generation Sequencing in Diagnostic Pathology

Ilyas¹

2017

Pathobiology

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Interrogation of tissue informs on patient management through delivery of a diagnosis together with associated clinically relevant data. The diagnostic pathologist will usually evaluate the morphological appearances of a tissue sample and, occasionally, the pattern of expression of a limited number of biomarkers. Recent developments in sequencing technology mean that DNA and RNA from tissue samples can now be interrogated in great detail. These new technologies, collectively known as next-generation sequencing (NGS), generate huge amounts of data which can be used to support patient management. In order to maximize the utility of tissue interrogation, the molecular data need to be interpreted and integrated with the morphological data. However, in order to interpret the molecular data, the pathologist must understand the utility and the limitations of NGS data. In this review, the principles behind NGS technologies are described. In addition, the caveats in the interpretation of the data are discussed, and a scheme is presented to “classify” the types of data which are generated. Finally, a glossary of new terminology is included to help pathologists become familiar with the lexicon of NGS-derived molecular data.

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Section: Ngs Versus Standard Sequencing Technologiesmentioning

confidence: 99%

Next-Generation Sequencing in Diagnostic Pathology

Ilyas¹

2017

Pathobiology

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“…There are multiple examples that provide excellent demonstrations of the power of new technologies to deliver a range of biomarkers. Most efforts in this area are currently focused on predictive genetic tests using genotyping or HTS technology [3,4], whereas the potential of other omics platforms has been underestimated.…”

Section: Introductionmentioning

confidence: 99%

Exploration of individuality in drug metabolism by high-throughput metabolomics: The fast line for personalized medicine

Trifonova

Knight

Lisitsa

et al. 2016

Drug Discovery Today

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“…They can also be applied to complex disorders [6], personalized treatment, and pharmacogenomics [7,8,9]. The medical genetics field translates high-throughput genetic data to clinical settings in order to improve diagnostic efficiency and treatment decision-making [10,11].…”

Section: Introductionmentioning

confidence: 99%

Clinical Interpretation of Genomic Variations

Sayitoğlu¹

2016

Tjh

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Novel high-throughput sequencing technologies generate large-scale genomic data and are used extensively for disease mapping of monogenic and/or complex disorders, personalized treatment, and pharmacogenomics. Next-generation sequencing is rapidly becoming routine tool for diagnosis and molecular monitoring of patients to evaluate therapeutic efficiency. The next-generation sequencing platforms generate huge amounts of genetic variation data and it remains a challenge to interpret the variations that are identified. Such data interpretation needs close collaboration among bioinformaticians, clinicians, and geneticists. There are several problems that must be addressed, such as the generation of new algorithms for mapping and annotation, harmonization of the terminology, correct use of nomenclature, reference genomes for different populations, rare disease variant databases, and clinical reports.

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Next-Generation Sequencing: From Understanding Biology to Personalized Medicine

Cited by 39 publications

References 169 publications

Next-Generation Sequencing in Diagnostic Pathology

Next-Generation Sequencing in Diagnostic Pathology

Exploration of individuality in drug metabolism by high-throughput metabolomics: The fast line for personalized medicine

Clinical Interpretation of Genomic Variations

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