Human Genome Informatics

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’s research interests focus on bioinformatics, particularly in making lifestyle decisions based on genomic information. George P. Patrinos is a Professor of Pharmacogenomics and Pharmaceutical Biotechnology in the University of Patras (Greece), Department of Pharmacy, and Head of Division of Pharmacology and Biosciences of the same department and holds adjunct Full Professorships at Erasmus MC, Faculty of Medicine, and Health Sciences, Rotterdam (the Netherlands), and the United Arab Emirates University, College of Medicine, Department of Genetics and Genomics, Al-Ain (UAE). Also, from 2018 until the end of 2024, he was Chair of the Global Genomic Medicine Collaborative (G2MC). He served 12.5 years as a full member and Greece’s National representative in the CHMP Pharmacogenomics Working Party of the European Medicines Agency (EMA). George has more than 340 publications in peer-reviewed scientific journals, some of them in leading scientific journals, such as The Lancet, Nature Genetics, Nature Reviews Genetic, Nucleic Acids Research, Genes & Development. He has also coauthored and coedited more than 15 textbooks, among which the renowned textbook Molecular Diagnostics, published by Academic Press, now in its 3rd edition, while he is the editor of Translational and Applied Genomics book series, published by Elsevier. Furthermore, he serves as the Editor-In-Chief of the prestigious Pharmacogenomics Journal (TPJ), published by Nature Publishing Group, Associate Editor, and member of the editorial board of several scientific journals, and advisory and evaluation committees. Apart from that, George is the main coorganizer of the Golden Helix Conferences, an international meeting series on Pharmacogenomics and Genomic Medicine with more than 50 conferences organized in more than 25 countries worldwide.

• 1. Human Genome Informatics: Coming of Age2. Creating Transparent and Reproducible Pipelines: Best Practices for Tools, Data, and 3. How Cytogenetics Paradigms Shape Decision Making in Translational Genomics4. An Introduction to Tools, Databases, and Practical Guidelines for NGS Data Analysis5. Proteomics and Metabolomics Data Analysis for Translational Medicine6. Incentives for Human Genome Variation Data Sharing7. A Review of Tools to Automatically Infer Chromosomal Positions From dbSNP and HGVS Genetic Variants8. Translating Genomic Information to Rationalize Drug Use9. Minimum Information Required for Pharmacogenomics Experiments10. Human Genomic Databases in Translational Medicine11. Artificial Intelligence: The Future Landscape of Genomic Medical Diagnosis: Dataset, In Silico Artificial Intelligent Clinical Information, and Machine Learning Systems12. Genomics England: The Future of Genomic Medical Diagnosis: Governmental Scale Clinical Sequencing and Potential Walled-Garden Impact on Global Data Sharing