Next Generation Sequencing

In recent years, due to the rapid development of various sequencing technologies in the post-human genome project era, sequencing analysis of a group of target genes, the entire protein-coding regions of the human genome, and the whole human genome has become a reality. Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies provide a way to screen for mutations in many different genes in a cost-effective and time-efficient manner through deep coverage of target sequences. This novel technology has now been applied to the clinical diagnostics of Mendelian diseases, well-characterized or undefined conditions, the discovery of new disease genes, non-invasive prenatal diagnostics using maternal blood, and population-based carrier testing for severe autosomal recessive disorders. This book addresses topics related to these applications, including potential limitations and expanded applications.