Human Genome Informatics: Translating Genes into Health

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

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