Human Genome Informatics. Translating Genes into Health. Translational and Applied Genomics

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

Authors

Christophe Lambert Associate Professor, University of New Mexico School of Medicine, USA and Founder and Chairman of Golden Helix Inc.. 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. Darrol Baker Director, Golden Helix Institute of Biomedical Research, London, UK. Darrol Baker's research interests focus on bioinformatics, particularly in making lifestyle decisions based on genomic information. George P. Patrinos 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. 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”.