ABSTRACT
This introduction presents an overview of the key concepts discussed in the subsequent chapters of this book. The book is about the bioinformatics of human genome and exome sequencing, which has gone through a similarly spectacular development over the past few years. The book introduces the main subjects of analysis by exome and genome sequencing: Mendelian disease, cancer, and precision medicine. It also explains next-generation sequencing (NGS) technologies, and covers all relevant steps of the bioinformatic analysis of whole exome sequencing (WES) and whole genome sequencing (WGS) data from low-level data processing to bioinformatic clinical decision support algorithms. The two major areas in which WES/WGS have been used in clinical care are for the diagnosis of suspected Mendelian (genetic) syndromes and cancer. One of the major applications of WES/WGS in translational research in medical genetics involves the characterization of all Mendelian disease genes.
