Introduction to Genomic Diagnostics

The outputs of the Human Genome Project (HGP) have enabled the development of clinical genomics. This chapter describes the background to modern genomics and the tools for polymorphism and mutation detection that are relevant to diagnostics. The strategies used for sequencing and mapping the human genome that were used to complete the HGP are summarised. Molecular methodologies, such as next-generation sequencing (NGS), whole-exome sequencing (WES) and whole-genome sequencing (WGS) and developments in bioinformatics are essential for the identification of pathogenic mutations. Together with genetic variant detection technologies, these approaches should continue to lead the discovery and development of high-precision and cost-effective diagnostic tests for the clinic and doctor's office.