Chapter 1. Human Genome Informatics: Coming of Age
Chapter 2. Creating Transparent and Reproducible Pipelines: Best Practices for Tools, Data, and
Chapter 3. How Cytogenetics Paradigms Shape Decision Making in Translational Genomics
Chapter 4. An Introduction to Tools, Databases, and Practical Guidelines for NGS Data Analysis
Chapter 5. Proteomics and Metabolomics Data Analysis for Translational Medicine
Chapter 6. Incentives for Human Genome Variation Data Sharing
Chapter 7. A Review of Tools to Automatically Infer Chromosomal Positions From dbSNP and HGVS Genetic Variants
Chapter 8. Translating Genomic Information to Rationalize Drug Use
Chapter 9. Minimum Information Required for Pharmacogenomics Experiments
Chapter 10. Human Genomic Databases in Translational Medicine
Chapter 11. Artificial Intelligence: The Future Landscape of Genomic Medical Diagnosis: Dataset, In Silico Artificial Intelligent Clinical Information, and Machine Learning Systems
Chapter 12. Genomics England: The Future of Genomic Medical Diagnosis: Governmental Scale Clinical Sequencing and Potential Walled-Garden Impact on Global Data Sharing
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.
- 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
- No. of pages:
- © Academic Press 2018
- 8th August 2018
- Academic Press
- eBook ISBN:
- Paperback ISBN:
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.
Associate Professor, University of New Mexico School of Medicine, USA and Founder and Chairman of Golden Helix Inc.
Darrol Baker’s research interests focus on bioinformatics, particularly in making lifestyle decisions based on genomic information.
Director, Golden Helix Institute of Biomedical Research, London, UK
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”.
Associate Professor, Pharmacogenomics and Pharmaceutical Biotechnology, University of Patras, Greece