Human Genome Informatics - 1st Edition - ISBN: 9780128094143

Human Genome Informatics

1st Edition

Translating Genes into Health

Editors: Darrol Baker Christophe Lambert George Patrinos
Paperback ISBN: 9780128094143
Imprint: Academic Press
Published Date: 1st August 2018
Page Count: 250
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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. Introduction
2. Interpretation of Cytogenetics data
3. Interpretation of microarray and transcriptomics data
4. Interpretation of whole exome and whole genome data
5. Artificial intelligence and translational tools
6. Translational tools for pharmacogenomics
7. Minimum information required for Pharmacogenomics experiments
8. Proteomics and metabolomics data analysis for translational medicine
9. Genome databases
10. Genomic data sharing
11. Genomics England as an example of genome informatics applications
12. Conclusions and future perspectives


No. of pages:
© Academic Press 2018
Academic Press
Paperback ISBN:

About the Editor

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

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.

George Patrinos

Dr. George Patrinos is an Associate Professor 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 molecular diagnostics, high-throughput mutation screening, the development of online mutation diagnostic tools, and the implementation of genomics in healthcare, particularly for health systems in developing countries. George Patrinos has published more than 170 scientific papers in peer reviewed journals on topics related to genetics, genomic medicine, pharmacogenomics, molecular diagnostics, and social and economic evaluation for genomic medicine. Dr. Patrinos is also the co-author of Economic Evaluation in Genomic Medicine (2015) and co-Editor of Molecular Diagnostics, Second Edition (2009), both published by Elsevier, and serves as Communicating Editor for the journal Human Mutation. Additionally, he is co-organizer of the international meeting series “Golden Helix Symposia” and “Golden Helix Pharmacogenomics Days”.

Affiliations and Expertise

Associate Professor, Pharmacogenomics and Pharmaceutical Biotechnology, University of Patras, Greece

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