Human Genome Informatics
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Human Genome Informatics

Translating Genes Into Health
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ISBN-13:
9780128094143
Veröffentl:
2018
Erscheinungsdatum:
08.08.2018
Seiten:
314
Autor:
Christophe Lambert
Gewicht:
663 g
Format:
235x192x17 mm
Sprache:
Englisch
Beschreibung:

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 Professor of Pharmacogenomics and Pharmaceutical Biotechnology in the University of Patras (Greece), Department of Pharmacy, Head of Division of Pharmacology and Biosciences of the same Department and holds adjunct Full Professorships at Erasmus MC, Faculty of Medicine, Rotterdam (the Netherlands) and the United Arab Emirates University, College of Medicine, Department of Genetics and Genomics, Al-Ain (UAE). Also, since March 2018, he is Chair of the Global Genomic Medicine Collaborative (G2MC) and since May 2023 Chairman of the Scientific Advisory Board of the ASPIRE Abu Dhabi Precision Medicine Research Institute. He has ample regulatory experience, as he served for 12.5 years as Full Member and Greece's National representative in the CHMP Pharmacogenomics Working Party of the European Medicines Agency (EMA) and he is still an active member of the European Medicines Agency participating in expert panels to provide scientific advice where needed. George is currently Director of the Laboratory of Pharmacogenomics and Individualized Therapy, the first officially established academic pharmacogenomics laboratory in Greece. His group has keen interest in research covering disciplines from wet and dry lab and public health genomics projects, all focusing on pharmacogenomics and personalized medicine. In particular, his research interests involve discovery work and clinical implementation of pharmacogenomics, focusing in particular in psychiatry but also cardiology and oncology, genomics of rare disorders and transcriptional regulation of human fetal globin genes. Moreover, George's group is internationally recognized for its involvement in developing National/Ethnic Genetic databases to document the genetic heterogeneity in different populations worldwide and of genome informatics tools to translate genomic information into a clinically meaningful format. Also, George's group has a keen interest in public health genomics to critically assess the impact of genomics to society and public health. George has more than 330 publications in peer-reviewed scientific journals, some of them in leading scientific journals, such as The Lancet and Lancet EBioMedicine. Also, he has co-authored and co-edited 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, since September 2020, he serves as 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 has been a member of several international boards and advisory and evaluation committees. Apart from that, George is the main co-organizer 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

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.

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