Read e-book online Clinical Applications for Next-Generation Sequencing PDF

By Urszula Demkow, Rafal Ploski

ISBN-10: 0128017392

ISBN-13: 9780128017395

ISBN-10: 0128018410

ISBN-13: 9780128018415

Clinical functions for subsequent iteration Sequencing offers readers with an exceptional postgraduate source to profit in regards to the translational use of NGS in scientific environments.

Rooted in either clinical genetics and medical drugs, the booklet fills the space among cutting-edge expertise and evidence-based perform, supplying a tutorial chance for clients to improve sufferer care by means of moving NGS to the desires of real-world patients.

The e-book builds an interface among genetic laboratory employees and scientific medical experts not to purely increase communique, but additionally develop cooperation. clients will locate worthwhile strategies they could use to construct a scientific framework for figuring out the function of NGS trying out in either universal and infrequent illnesses and stipulations, from prenatal care, like chromosomal abnormalities, as much as complex age difficulties like dementia.

  • Fills the distance among state of the art know-how and evidence-based practice
  • Provides an academic chance which advances sufferer care throughout the move of NGS to real-world sufferer assessment
  • Promotes a realistic device that clinicians can practice on to sufferer care
  • Includes a scientific framework for figuring out the function of NGS trying out in lots of universal and infrequent illnesses
  • Presents proof concerning the very important position of NGS in present diagnostic recommendations

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Additional resources for Clinical Applications for Next-Generation Sequencing

Sample text

Clinical Applications for Next-Generation Sequencing. 00003-9 Copyright © 2016 Elsevier Inc. All rights reserved. 39 40 CHAPTER 3 ANALYSIS OF STRUCTURAL CHROMOSOME VARIANTS We will discuss the basic approach taken by several groups first to identify structural variants, then to quantify their impact, and finally to provide clinical diagnosis and suggest possible treatments. We will explore the computational methods, summarizing the data modalities as acquired from various copy number calling methods.

Hybrid methods have also been proposed and implemented to mitigate disadvantages of the basic approaches.

Multiple methods of SV detection rely on information provided by paired-end sequencing. Despite the conceptual similarity of the mate-pair and paired-end sequencing approaches [23], each influences the output of the sequencing step differently, therefore augmenting the final result of the SV analysis [33]. Cancer is the most profound example of a disease involving SVs. It has been shown that practically every tumor carries multiple forms of structural variation, whether they be altered copy numbers of cancer-driving genes or chromosomal rearrangements; although the number of SV events is usually much lower than the count of point mutations in tumor-involved genes [34,35], their role in cancer initiation and progression must not be underestimated, as the events often introduce major changes.

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Clinical Applications for Next-Generation Sequencing by Urszula Demkow, Rafal Ploski


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