Human Genome Informatics

Human Genome Informatics

Translating Genes into Health

1st Edition - August 2, 2018

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  • Editors: Christophe Lambert, Darrol Baker, George Patrinos
  • Paperback ISBN: 9780128094143
  • eBook ISBN: 9780128134313

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Human Genome Informatics: Translating Genes into Health examines the most commonly used electronic tools for translating genomic information into clinically meaningful formats. By analyzing and comparing interpretation methods of whole genome data, the book discusses the possibilities of their application in genomic and translational medicine. Topics such as electronic decision-making tools, translation algorithms, interpretation and translation of whole genome data for rare diseases are thoroughly explored. In addition, discussions of current human genome databases and the possibilities of big data in genomic medicine are presented. With an updated approach on recent techniques and current human genomic databases, the book is a valuable source for students and researchers in genome and medical informatics. It is also ideal for workers in the bioinformatics industry who are interested in recent developments in the field.

Key Features

  • Provides an overview of the most commonly used electronic tools to translate genomic information
  • Brings an update on the existing human genomic databases that directly impact genome interpretation
  • Summarizes and comparatively analyzes interpretation methods of whole genome data and their application in genomic medicine


Graduate, doctoral and post-doctoral researchers in genome informatics and medical informatics; workers / representatives from bioinformatics companies and diagnostic laboratories interested in establishing informatics approaches to translate and interpret their findings

Table of Contents

  • 1. Human Genome Informatics: Coming of Age
    2. Creating Transparent and Reproducible Pipelines: Best Practices for Tools, Data, and
    3. How Cytogenetics Paradigms Shape Decision Making in Translational Genomics
    4. An Introduction to Tools, Databases, and Practical Guidelines for NGS Data Analysis
    5. Proteomics and Metabolomics Data Analysis for Translational Medicine
    6. Incentives for Human Genome Variation Data Sharing
    7. A Review of Tools to Automatically Infer Chromosomal Positions From dbSNP and HGVS Genetic Variants
    8. Translating Genomic Information to Rationalize Drug Use
    9. Minimum Information Required for Pharmacogenomics Experiments
    10. Human Genomic Databases in Translational Medicine
    11. Artificial Intelligence: The Future Landscape of Genomic Medical Diagnosis: Dataset, In Silico Artificial Intelligent Clinical Information, and Machine Learning Systems
    12. Genomics England: The Future of Genomic Medical Diagnosis: Governmental Scale Clinical Sequencing and Potential Walled-Garden Impact on Global Data Sharing

Product details

  • No. of pages: 314
  • Language: English
  • Copyright: © Academic Press 2018
  • Published: August 2, 2018
  • Imprint: Academic Press
  • Paperback ISBN: 9780128094143
  • eBook ISBN: 9780128134313

About the Editors

Christophe Lambert

Dr. Christophe G. Lambert’s research interests span bioinformatics, cheminformatics and clinical research informatics. He has spent his career developing informatics solutions for biomedical research that has been used by thousands of scientists.

Affiliations and Expertise

Associate Professor, University of New Mexico School of Medicine, USA and Founder and Chairman of Golden Helix Inc.

Darrol Baker

Darrol Baker’s research interests focus on bioinformatics, particularly in making lifestyle decisions based on genomic information.

Affiliations and Expertise

Director, Golden Helix Institute of Biomedical Research, London, UK

George Patrinos

George Patrinos is Professor of Pharmacogenomics at the University of Patras School of Health Sciences (Department of Pharmacy) in Patras, Greece with Adjunct positions in Rotterdam, the Netherlands and Al-Ain, United Arab Emirates. His research interests span the fields of pharmacogenomics and personalised medicine, focused on psychiatric diseases and hemoglobinopathies, the implementation of genomics into healthcare, particularly for health systems in developing countries, the development of genomic databases and web-based translational tools for personalised medicine and the application of genomics in public health. George Patrinos has published more than 270 scientific papers in peer reviewed journals on topics related to genetics, genomic medicine, pharmacogenomics, molecular diagnostics, and social and economic evaluation for genomic medicine. He is also the editor of several textbooks published by Elsevier/Academic Press, including the renowned textbook "Molecular Diagnostics", published by Elsevier now in its third edition. He serves as Editor-In-Chief and Communicating and Associate Editor for several high impact scientific journals and he is co-organizer of the international meeting series “Golden Helix Conferences”.

Affiliations and Expertise

Professor, Department of Pharmacy, University of Patras School of Health Sciences, Patras, Greece; United Arab Emirates University, College of Medicine and Health Sciences, Department of Pathology, Al-Ain, UAE, United Arab Emirates University, Zayed Center of Health Sciences, Al-Ain, UAE and Erasmus University Medical Center, School of Medicine and Health Sciences, Department of Pathology – Bioinformatics Unit, Rotterdam, The Netherlands

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