Next Generation Sequencing : Translation to Clinical Diagnostics

Springer-Verlag New York Inc.

Unlock the power of rapid advancements in sequencing technologies with this comprehensive guide to Next Generation Sequencing (NGS) and its translation to clinical diagnostics. Explore how NGS and Massively Parallel Sequencing (MPS) offer cost and time-efficient methods for screening mutations across entire genomes, enabling efficient diagnosis of Mendelian disorders, discovery of new disease genes, and population-based carrier testing. This book details current applications, potential limitations, and future expanded uses of this revolutionary technology. Key applications include: * Clinical diagnosis of Mendelian disorders * Discovery of new disease genes * Noninvasive prenatal diagnosis * Population-based carrier testing Product Summary: This hardcover book, written by Lee-Jun C. Wong, provides an in-depth look at Next Generation Sequencing and its vital role in clinical diagnostics. Published by Springer New York, NY, it features 302 pages of detailed information in English.