Human Genome Informatics : Translating Genes into Health

ISBN-13: 9780128094143 / Angielski / Miękka / 2018 / 314 str.

Opis

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 interpretationSummarizes and comparatively analyzes interpretation methods of whole genome data and their application in genomic medicine

Spis treści

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

O autorze

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. Dr. Patrinos is internationally renowned for his involvement in the field of pharmacogenomics research. His research includes discovery work and addresses the issue of clinical implementation of pharmacogenomics in a holistic manner, including wet- and dry-lab, as well as public health genomics approaches. Dr. Patrinos has also a keen interest in the clinical implementation of genomic medicine in resource-limited environments.