Human Genome Informatics
Translating Genes into Health
by Christophe G. Lambert, Darrol J. Baker, George P. Patrinos
Publisher: Academic Press
Book Details
| Print ISBN | 9780128094143 |
| eText ISBN | 9780128134313 |
| Publisher | Academic Press |
| Publishing Year | 2018 |
| Language | English |
Human Genome Informatics: Translating Genes into Health is a textbook focused exclusively on the use of informatics in human genomics research and genomic medicine.
The volume analyzes and compares methods for interpreting whole genome data, examining how these approaches apply to translational clinical practice. Core subjects include computational translation algorithms, electronic decision-making tools, and the translation of whole genome data for rare diseases. It also reviews human genome databases and evaluates the potential of big data within genomic healthcare.
This work is intended for students and researchers in genome and medical informatics, as well as professionals working across the bioinformatics industry.
Table of Contents
Chapter 1: Human Genome Informatics: Coming of Age
Chapter 2: Creating Transparent and Reproducible Pipelines: Best Practices for Tools, Data, and Workflow Management Systems
Chapter 3: How Cytogenetics Paradigms Shape Decision Making in Translational Genomics
Chapter 4: An Introduction to Tools, Databases, and Practical Guidelines for NGS Data Analysis
Chapter 5: Proteomics and Metabolomics Data Analysis for Translational Medicine
Chapter 6: Incentives for Human Genome Variation Data Sharing
Chapter 7: A Review of Tools to Automatically Infer Chromosomal Positions From dbSNP and HGVS Genetic Variants
Chapter 8: Translating Genomic Information to Rationalize Drug Use
Chapter 9: Minimum Information Required for Pharmacogenomics Experiments
Chapter 10: Human Genomic Databases in Translational Medicine
Chapter 11: Artificial Intelligence: The Future Landscape of Genomic Medical Diagnosis: Dataset, In Silico Artificial Intelligent Clinical Information, and Machine Learning Systems
Chapter 12: Genomics England: The Future of Genomic Medical Diagnosis: Governmental Scale Clinical Sequencing and Potential Walled-Garden Impact on Global Data Sharing
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