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Clinical Bioinformatics

  • Book
  • © 2014

Overview

Editors:
  1. Ronald Trent

    1. Department of Medical Genomics, Royal Prince Alfred Hospital and Sydney Medical School, University of Sydney, Camperdown, Australia

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  • Includes cutting-edge methods and protocols
  • Provides step-by-step detail essential for reproducible results
  • Contains key notes and implementation advice from the experts

Part of the book series: Methods in Molecular Biology (MIMB, volume 1168)

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Table of contents (18 protocols)

  1. Front Matter

    Pages i-xi
    Download chapter PDF

  2. From the Phenotype to the Genotype via Bioinformatics

    • Cali E. Willet, Claire M. Wade
    Pages 1-16

  3. Production and Analytic Bioinformatics for Next-Generation DNA Sequencing

    • Richard James Nigel Allcock
    Pages 17-29

  4. Analyzing the Metabolome

    • Francis G. Bowling, Mervyn Thomas
    Pages 31-45

  5. Statistical Perspectives for Genome-Wide Association Studies (GWAS)

    • Jennifer H. Barrett, John C. Taylor, Mark M. Iles
    Pages 47-61

  6. Bioinformatics Challenges in Genome-Wide Association Studies (GWAS)

    • Rishika De, William S. Bush, Jason H. Moore
    Pages 63-81

  7. Studying Cancer Genomics Through Next-Generation DNA Sequencing and Bioinformatics

    • Maria A. Doyle, Jason Li, Ken Doig, Andrew Fellowes, Stephen Q. Wong
    Pages 83-98

  8. Using Bioinformatics Tools to Study the Role of microRNA in Cancer

    • Fabio Passetti, Natasha Andressa Nogueira Jorge, Alan Durham
    Pages 99-116

  9. Chromosome Microarrays in Diagnostic Testing: Interpreting the Genomic Data

    • Greg B. Peters, Mark D. Pertile
    Pages 117-155

  10. Bioinformatics Approach to Understanding Interacting Pathways in Neuropsychiatric Disorders

    • Ali Alawieh, Zahraa Sabra, Amaly Nokkari, Atlal El-Assaad, Stefania Mondello, Fadi Zaraket et al.
    Pages 157-172

  11. Pathogen Genome Bioinformatics

    • Vitali Sintchenko, Michael P. V. Roper
    Pages 173-193

  12. Setting Up Next-Generation Sequencing in the Medical Laboratory

    • Bing Yu
    Pages 195-206

  13. Managing Incidental Findings in Exome Sequencing for Research

    • Marcus J. Hinchcliffe
    Pages 207-225

  14. Approaches for Classifying DNA Variants Found by Sanger Sequencing in a Medical Genetics Laboratory

    • Pak Leng Cheong, Melody Caramins
    Pages 227-250

  15. Designing Algorithms for Determining Significance of DNA Missense Changes

    • Sivakumar Gowrisankar, Matthew S. Lebo
    Pages 251-262

  16. DNA Variant Databases: Current State and Future Directions

    • John-Paul Plazzer, Finlay Macrae
    Pages 263-273

  17. Natural Language Processing in Biomedicine: A Unified System Architecture Overview

    • Son Doan, Mike Conway, Tu Minh Phuong, Lucila Ohno-Machado
    Pages 275-294

  18. Candidate Gene Discovery and Prioritization in Rare Diseases

    • Anil G. Jegga
    Pages 295-312

  19. Computer-Aided Drug Designing

    • Mohini Gore, Neetin S. Desai
    Pages 313-321

  20. Back Matter

    Pages 323-326
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Keywords

About this book

In Clinical Bioinformatics, Second Edition, leading experts in the field provide a series of articles focusing on software applications used to translate information into outcomes of clinical relevance. Recent developments in omics, such as increasingly sophisticated analytic platforms allowing changes in diagnostic strategies from the traditional focus on single or small number of analytes to what might be possible when large numbers or all analytes are measured, are now impacting patient care. Covering such topics as gene discovery, gene function (microarrays), DNA sequencing, online approaches and resources, and informatics in clinical practice, this volume concisely yet thoroughly explores this cutting-edge subject. Written in the successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols, and notes on troubleshooting and avoiding known pitfalls.

Authoritative and easily accessible, Clinical Bioinformatics, Second Edition serves as an ideal guide for scientists and health professionals working in genetics and genomics.

Editors and Affiliations

  • Department of Medical Genomics, Royal Prince Alfred Hospital and Sydney Medical School, University of Sydney, Camperdown, Australia

    Ronald Trent

Bibliographic Information

  • Book Title: Clinical Bioinformatics

  • Editors: Ronald Trent

  • Series Title: Methods in Molecular Biology

  • DOI: https://doi.org/10.1007/978-1-4939-0847-9

  • Publisher: Humana New York, NY

  • eBook Packages: Springer Protocols

  • Copyright Information: Springer Science+Business Media New York 2014

  • Hardcover ISBN: 978-1-4939-0846-2Published: 28 May 2014

  • Softcover ISBN: 978-1-4939-4700-3Published: 23 August 2016

  • eBook ISBN: 978-1-4939-0847-9Published: 28 May 2014

  • Series ISSN: 1064-3745

  • Series E-ISSN: 1940-6029

  • Edition Number: 2

  • Number of Pages: XI, 326

  • Number of Illustrations: 3 b/w illustrations, 53 illustrations in colour

  • Topics: Bioinformatics

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