Next Generation Sequencing: Translation to Clinical Diagnostics - Couverture rigide

Couverture rigide

ISBN 10 : 1461470005 ISBN 13 : 9781461470007

Editeur : Springer-Verlag New York Inc., 2013

Synopsis

In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, 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 offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences. This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well characterized or undefined diseases, discovery of new disease genes, noninvasive prenatal diagnosis using maternal blood, and population based carrier testing of severe autosomal recessive disorders. This book covers topics of these applications, including potential limitations and expanded application in the future. ​

A propos du livre

Présentation de l'éditeur

This book examines next generation sequencing applications. It details current technologies, various gene enrichment methods and massively parallel sequencing platforms, potential limitations, and the application of these technologies.

Détails de l'édition

• Éditeur: Springer-Verlag New York Inc.
• Date d'édition: 2013
• Langue: anglais
• ISBN 10: 1461470005
• ISBN 13: 9781461470007
• Reliure: Relié
• Nombre de pages: 313
• Éditeur: Wong Lee-Jun C.
• Coordonnées du fabricant: GPSR Kontakt; ProductSafety@springernature.com; ; Tiergartenstr. 17; Heidelberg; 69121; Allemagne