Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

Next Generation Sequencingtechnology has been applied to clinical diagnoses in the past three to five yearsusing various approaches, including target gene panels and whole exomes. The purpose of this book is to summarize the experiences, the results, advantages and disadvantages,along withfuture development in the area of NGS-based molecular diagnosis. This up-to-date volume will not only provide the readers working withNext Generation Sequencing the basics onhow to apply the technology to molecular diagnosis, but will present the results and experience of practical application.