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Urszula Demkow, Rafal Ploski's 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 purposes for subsequent iteration Sequencing presents readers with an excellent postgraduate source to benefit in regards to the translational use of NGS in medical environments.

Rooted in either clinical genetics and scientific drugs, the publication fills the distance among cutting-edge know-how and evidence-based perform, delivering a tutorial chance for clients to enhance sufferer care through shifting NGS to the desires of real-world patients.

The ebook builds an interface among genetic laboratory employees and medical medical experts not to simply enhance verbal exchange, but in addition advance cooperation. clients will locate priceless strategies they could use to construct a scientific framework for figuring out the function of NGS trying out in either universal and infrequent ailments and prerequisites, from prenatal care, like chromosomal abnormalities, as much as complex age difficulties like dementia.

  • Fills the distance among state of the art expertise and evidence-based practice
  • Provides an academic chance which advances sufferer care during the move of NGS to real-world sufferer assessment
  • Promotes a pragmatic instrument that clinicians can practice on to sufferer care
  • Includes a scientific framework for figuring out the position of NGS trying out in lots of universal and infrequent illnesses
  • Presents facts in regards to the very important position of NGS in present diagnostic innovations

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Additional resources for Clinical Applications for Next-Generation Sequencing

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Structural variant sizes span several scales: microscale (from a few nucleotides up to 40 kb), mesoscale (40 kb–2 Mb), and macroscale (>2 Mb). An important distinction is between balanced and unbalanced SVs. Balanced SVs include translocations (TRA) and inversions (INV)—changes that do not involve a loss of genetic information but may create chimeric or broken genes. Unbalanced SVs lead to a net decrease/increase of DNA through deletion (DEL)/ duplication (DUP)/ insertion (INS) or higher order amplification.

Therefore, it is likely that arrays will be complemented by NGS methods in the present clinical applications, yet further on we expect that NGS will be used as a single diagnostic tool in patients with complex genetic diseases, such as brain-related disorders, revealing both CNVs and mutations in a single test. STRUCTURAL VARIATION AND NEXT GENERATION SEQUENCING The basic idea behind NGS is to generate large amounts of DNA sequence data through massive parallelization. The various first, second, and third generation sequencing platforms have enabled the generation of gigabases of sequence at varying levels of read lengths.

Bioinforma 2014;30:2213–5. 1093/bioinformatics/btu208. [41] Cochrane G, Cook CE, Birney E. The future of DNA sequence archiving. GigaScience 2012;1:2. 1186/2047-217X-1-2. CHAPTER ANALYSIS OF STRUCTURAL CHROMOSOME VARIANTS BY NEXT GENERATION SEQUENCING METHODS 3 Dariusz Plewczynski1,2,3, Sławomir Gruca4,5, Przemysław Szałaj3,6, Krystian Gulik4, Silviene Fabiana de Oliveira2,7, Ankit Malhotra2 1Centre of New Technologies, University of Warsaw, Warsaw, Poland; 2The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA; 3Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Bialystok, Poland; 4Department of Immunology, Medical University of Warsaw, Warsaw, Poland; 5Bioinformatics Group, University of Leeds, Leeds, West Yorkshire, UK; 6I-BioStat, Hasselt University, Hasselt, Belgium; 7Laboratório de Genética, Departamento de Genética e Morfologia, Instituto de Ciências Biológicas, Universidade de Brasília, Brasília, Brazil CHAPTER OUTLINE Introduction�������������������������������������������������������������������������������������������������������������������������������������������� 39 Structural Variants in the Human Genome������������������������������������������������������������������������������������������������ 40 Structural Variation and Human Disease�������������������������������������������������������������������������������������������������� 40 Analysis of Structural Variation by Legacy Technologies��������������������������������������������������������������������������� 41 Structural Variation and Next Generation Sequencing������������������������������������������������������������������������������� 42 Methods for Estimation of Copy Number Variation from NGS Data�������������������������������������������������������������� 42 Structural Variation, NGS, Cancer, and the Clinic�������������������������������������������������������������������������������������� 44 NGS-Based Structural Variation Detection Software���������������������������������������������������������������������������������� 46 Future Directions������������������������������������������������������������������������������������������������������������������������������������ 51 Acknowledgments����������������������������������������������������������������������������������������������������������������������������������� 57 References��������������������������������������������������������������������������������������������������������������������������������������������� 57 INTRODUCTION In this chapter, we will describe the impact of observed copy number variations (CNVs) and other structural variations (SVs) in cancer and diseases of genetic origin.

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


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