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Next Generation Sequencing Technologies in Medical Genetics
Taschenbuch von C. Alexander Valencia (u. a.)
Sprache: Englisch

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Beschreibung
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.¿
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.¿
Zusammenfassung

Describes the direct application of NGS sequencing to medicine

Focuses on application in molecular diagnostics?

Introduces readers to the wealth of next-generation technologies

Inhaltsverzeichnis

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.

Details
Erscheinungsjahr: 2013
Fachbereich: Andere Fachgebiete
Genre: Medizin
Rubrik: Wissenschaften
Medium: Taschenbuch
Reihe: SpringerBriefs in Genetics
Inhalt: xii
94 S.
5 farbige Illustr.
94 p. 5 illus. in color.
ISBN-13: 9781461490319
ISBN-10: 1461490316
Sprache: Englisch
Ausstattung / Beilage: Paperback
Einband: Kartoniert / Broschiert
Autor: Valencia, C. Alexander
Pervaiz, M. Ali
Zhang, Kejian
Qian, Yaping
Husami, Ammar
Hersteller: Springer US
Springer New York
Springer US, New York, N.Y.
SpringerBriefs in Genetics
Maße: 235 x 155 x 6 mm
Von/Mit: C. Alexander Valencia (u. a.)
Erscheinungsdatum: 17.10.2013
Gewicht: 0,197 kg
Artikel-ID: 105698978
Zusammenfassung

Describes the direct application of NGS sequencing to medicine

Focuses on application in molecular diagnostics?

Introduces readers to the wealth of next-generation technologies

Inhaltsverzeichnis

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.

Details
Erscheinungsjahr: 2013
Fachbereich: Andere Fachgebiete
Genre: Medizin
Rubrik: Wissenschaften
Medium: Taschenbuch
Reihe: SpringerBriefs in Genetics
Inhalt: xii
94 S.
5 farbige Illustr.
94 p. 5 illus. in color.
ISBN-13: 9781461490319
ISBN-10: 1461490316
Sprache: Englisch
Ausstattung / Beilage: Paperback
Einband: Kartoniert / Broschiert
Autor: Valencia, C. Alexander
Pervaiz, M. Ali
Zhang, Kejian
Qian, Yaping
Husami, Ammar
Hersteller: Springer US
Springer New York
Springer US, New York, N.Y.
SpringerBriefs in Genetics
Maße: 235 x 155 x 6 mm
Von/Mit: C. Alexander Valencia (u. a.)
Erscheinungsdatum: 17.10.2013
Gewicht: 0,197 kg
Artikel-ID: 105698978
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