Medical and health genomics / edited by Dhavendra Kumar, Stylianos Antonarakis.

Includes index.

Online resource; title from PDF title page (ScienceDirect, viewed June 20, 2016).

REFERENCES2 - Genomic Technologies in Medicine and Health: Past, Present, and Future; INTRODUCTION; SEQUENCING TECHNOLOGIES; COMPUTATIONAL AND INFORMATION TECHNOLOGIES; APPLICATIONS OF GENOMIC TECHNOLOGIES; THE MICROBIOME AND HUMAN HEALTH; The Pediatric Microbiome; The Microbiome and Oral Health; The Microbiome and Gastrointestinal Health; THE 1000 GENOMES PROJECT AND STRUCTURAL VARIATIONS IN THE HUMAN GENOMES; NONINVASIVE PRENATAL TESTING BY SEQUENCING OF CELL-FREE FETAL DNA IN THE MATERNAL BLOOD; PRENATAL DIAGNOSIS BY WHOLE GENOME SEQUENCING OF "JUMPING LIBRARIES"; POSTNATAL DIAGNOSIS

Front Cover; Medical and Health Genomics; Dedication; Medical and Health Genomics; Copyright; Contents; List of Contributors; Foreword; Preface; GENOMIC MEDICINE AND HEALTHCARE; 1 -- The Human Genome; INTRODUCTION; HEREDITARY FACTORS, GENES, GENETICS, AND GENOMICS; STRUCTURE AND ORGANIZATION OF NUCLEIC ACIDS; HUMAN GENOME VARIATION AND HUMAN DISEASE; Measuring Genetic and Genomic Variation; Genome Variation and Human Disease; THE MITOCHONDRIAL GENOME; FUNCTIONAL GENOMICS, TRANSCRIPTOMICS, AND PROTEOMICS; TRANSLATIONAL HUMAN GENOMICS; HUMAN GENOMICS FOR SOCIOECONOMIC DEVELOPMENT; CONCLUSIONS

GENOME SEQUENCING IN NEWBORN HEALTHCAREGENOME SEQUENCING IN OTHER RESEARCH AREAS; THE CANCER GENOME ATLAS AND CANCER GENOMICS; CANCER DIAGNOSIS; PRECISION MEDICINE; Development of Targeted Therapeutics for Genetic Disorders; Development of Targeted Therapeutics for Cancers; Genomic Profiling and Counseling; The Precision Medicine Initiative; POLICY AND REGULATORY ISSUES; GENOMIC EDUCATION; REFERENCES; 3 -- Genomic Databases, Access Review, and Data Access Committees; INTRODUCTION; UNDERLYING PRINCIPLES, POLICIES, AND GUIDELINES

EXAMPLES OF CONTROLLED-ACCESS DATABASES AND PERTINENT DATA ACCESS COMMITTEESEuropean Genome-phenome Archive; Database of Genotypes and Phenotypes; ETHICAL AND LEGAL CHALLENGES; Consent; Oversight Mechanisms on Downstream Uses and Enforceability; Data Producers and Data Users' Interests and Benefits; CONCLUSION; ACKNOWLEDGMENTS; REFERENCES; 4 -- Diagnostic Genomics and Clinical Bioinformatics; INTRODUCTION; Current Clinical Practice: Diagnosis; Chromosomal Microarrays; Single Gene Testing; Gene Panel Testing; Exome Sequencing; Whole Genome Sequencing; Diagnostic Testing Strategy

Inherited Cardiac ConditionsHypertrophic Cardiomyopathy; Aortopathies; Intellectual Disability; Deciphering Developmental Disorders; THE UK100K GENOMES PROJECT: LARGE-SCALE IMPLEMENTATION OF WHOLE GENOME SEQUENCING; Clinical Bioinformatics; Clinical Phenotyping; Bioinformatics Pipelines; Reference Genome; Interpretation of DNA Sequence Variants; Protein-Altering Variants; Variants Causing Aberrant Messenger RNA Splicing; Nucleotide Conservation; Inheritance and Mutation Type; Segregation Analysis; Mutational Mechanism and Variant Spectrum; De Novo Mutations; Functional Evidence

This book provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to nonclinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine--in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with implications for clinical population and disease management.