Main description:

A Primer of Human Genetics is an introductory textbook designed to give students the foundation they need to understand and appreciate the extraordinary shifts in human genetics that have accompanied the arrival of genomics. The book lays out the key concepts of human evolution, quantitative genetics, and personalized medicine before describing the tools that are missing from most contemporary textbooks: genome-wide association studies, whole-genome resequencing, gene expression and epigenome profiling, and integrative genomics. The final section provides an up-to-date survey of specific findings in six major domains of human disease: immunological, metabolic, cardiovascular, cancer, neuropsychological, and aging disorders. After reading this textbook, not only will students be better equipped to read current literature, they will gain a sense of the impact that the revolution in genomics has had for our understanding of the human condition, as well as of the major trends in human genetics research. Students are assumed to have a core understanding of genetics such as would be obtained in a general genetics class.

Each chapter is approximately 20 pages long, and organized under up to ten sub-headings, most of which incorporate an illustrative figure. Chapter summary points recap the key messages, and references point students to key reviews and contemporary highlights. Several of the chapters contain a single box, which provides extra material on topics such as 'Consent and Responsible Conduct of Research' and 'Methylation Analysis in Biology.'

Contents:

PART I. FOUNDATIONS 1. Conceptual Foundations.- BOX. Some Fundamental Principles of Quantitative Genetics.- Heritability.- Mendelian Genetics.- Rare Alleles of Major Effect.- Common Disease-Common Variant.- The Infinitesimal Model.- Conclusions and Synthesis.- 2. The Human Genome.- Chromosome Content.- Gene Content.- Gene Structure.- Gene Regulation.- RNA Genes.- Repetitive Elements.- Sequence Variation.- 3. Human Evolution.- Homo sapiens.- Human Dispersal: Out of Africa.- Human Population Structure.- Recombination and Linkage Disequilibrium.- Demographic Processes.- Purifying Selection.- Adaptation.- Why Do We Get Sick?.- 4. Normal Variation.- Pigmentation.- Height.- Weight.- Intelligence and Temperament.- Specific Behaviors.- Miscellaneous Traits.- 5. Personalized Genomics.- Concerns over Personal Genome Projects.- BOX. Consent and Responsible Conduct of Research.- Existing PGP Studies.- Prenatal Diagnostics.- Postnatal Diagnosis.- Genome Sequence-Enabled Unbiased Mutation Identification.- Genetic Counseling.- Pharmacogenetics.- Integrated Health.- PART II. TOOLS 6. Genome-Wide Association Studies.- First GWAS.- Basic Methodology.- BOX. Summary of an Association Study.- Population Structure.- Fine Mapping.- Causal Inference.- Interaction Effects.- Polygenic Risk and SNP-Based Heritability.- Genotyping Technologies.- 7. Whole-Genome and Whole-Exome Sequencing.- Sequencing Technology and Strategy.- Whole-Exome Sequencing.- BOX. Pedigree Mapping.- Copy Number and De Novo Variation.- Whole-Genome Sequencing.- Inference of Deleteriousness.- Candidate Gene Mapping.- Emerging Technologies.- 8. Gene Expression Profiling.- Microarray Analysis.- RNA Sequencing.- Basic Statistical Issues in Transcriptome Analysis.- Gene Ontology and Downstream Analysis.- Atlases of Gene Expression.- Biomarkers and Disease Progression.- Genome-Environment Interactions.- Genetics of Gene Expression Variation.- 9. The Epigenome.- The ENCODE Project.- Chromatin Profiling with DNase Hypersensitive Sites.- Chromatin Conformation Capture.- Methylation Profiling.- BOX. Methylation Analysis in Biology.- The Histone Code.- Chromatin Immunoprecipitation.- 10. Integrative Genomics.- Proteomics.- Metabolomics.- Metagenomics.- Integrative Genomics: Case Studies.- PART III. DISEASES 11. Immune-Related Disease.- Review of the Immune System.- Variable Responses to Pathogens.- Inflammatory Bowel Disease.- Type 1 Diabetes.- Other Autoimmune Diseases.- Primary Immune Deficiency.- 12. Metabolic Disease.- Primary Dyslipidemia and Hypercholesterolemia.- Quantitative Regulation of Lipid Traits.- Genetics of Blood Glucose and Insulin Levels.- Genetics of Type 2 Diabetes.- Evolution of Diabetes Risk.- The T2D Microbiome.- Nutrigenetics.- 13. Cardiovascular Disease.- Hypertension.- Platelet and Erythrocyte Function.- Arteriosclerosis.- Myocardial Infarction.- Mendelian Randomization.- Arrhythmia.- Cardiomyopathy.- Congenital Heart Defects.- 14. Cancer Genetics.- BOX. Familial Cancer Syndromes.- Conceptual Foundation.- Breast Cancer.- Prostate Cancer.- Lung Cancer.- Colorectal Cancer.- Leukemia.- Melanoma.- Glioblastoma.- Pan-Cancer Analysis.- 15. Neurological and Psychiatric Disorders.- Autism.- Schizophrenia.- Intellectual Disability.- Major and Bipolar Depression.- Epilepsy.- Evolving Mental Health.- [7 figures].- 16. Genetics of Aging.- Alzheimer's Disease.- Parkinson's Disease.- Age-Related Organ Failure.- Degenerative Bone Disease.- Biochemical Pathways of Aging.- Genomics of Human Longevity.- Concluding Remarks.- Glossary.- Index.