Title Next generation sequencing technologies in medical genetics / C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang

Published New York : Springer, 2013

Click on the following:
Springer Biomedical and Life Sciences eBooks
Springer eBooks

Copies

Description 1 online resource (xii, 94 pages) : color illustrations Series SpringerBriefs in Genetics, 2191-5563 SpringerBriefs in genetics, 2191-5563 Contents Sanger sequencing principles, history and landmarks -- A survey of next-generation sequencing technologies -- A review of DNA enrichment technologies -- Application of next-generation sequencing to the diagnosis of genetic disorders a brief overview -- Next-generation sequencing-based noninvasive prenatal diagnosis -- Diagnosis of inherited neuromuscular disorders by next-generation sequencing -- Application of next-generation sequencing in hearing loss diagnosis -- Exome sequencing as a discovery and a diagnostic tool -- Challenges of next-generation sequencing-based molecular diagnostics Summary This book introduces readers to Next Generation Sequencing applications in medical genetics. The authors discuss the direct application of next-generation sequencing to medicine, specifically, laboratory medicine or molecular diagnostics. The first part of the book contains chapters on sanger sequencing, NGS technologies, targeted-amplification and capture, and exome sequencing. The second part of the book focuses on genetic disorders diagnoses by NGS, prenatal diagnosis, muscular dystrophies, mitochondrial disorders diagnosis, and challenges in molecular diagnosis. Recent developments and potential future trends in NGS sequencing applications are highlighted, as well Bibliography Includes bibliographical references Notes English Online resource; title from PDF title page (SpringerLink, viewed October 21, 2013) Subject Nucleotide sequence -- Data processing Medical genetics -- Technique. Nucleotides. Medical genetics. Base Sequence -- genetics Nucleotides Genetics, Medical SCIENCE -- Life Sciences -- Biochemistry. Nucleotides Medical genetics Medical genetics -- Technique Nucleotide sequence -- Data processing Form Electronic book Author Valencia, C. Alexander, author. Pervaiz, M. Ali, author. Husami, Ammar, author. Qian, Yaping, author. Zhang, Kejian (Geneticist), author. ISBN 9781461490326 1461490324 1306164923 9781306164924

  Permalink