A Primer of Human Genetics (PDF)

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.”