Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

Buch | Hardcover

VIII, 364 Seiten

2017 | 1st ed. 2017
Springer International Publishing (Verlag)
978-3-319-56416-6 (ISBN)

Artikel merken

Next Generation Sequencing technology has been applied to clinical diagnoses in the past three to five years using 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 with future development in the area of NGS-based molecular diagnosis. This up-to-date volume will not only provide the readers working with Next Generation Sequencing the basics on how to apply the technology to molecular diagnosis, but will present the results and experience of practical application.

Dr. Wong received her BS in Biochemistry from National Taiwan University and her Ph.D. in Chemistry from the Ohio State University. She did her postdoctoral training in biochemical sciences at Fox Chase Cancer Center in Philadelphia, with the Nobel Laureate Dr. Irwin Rose, and at Princeton University with Dr. Bruce Alberts, the past president of the US National Academy of Science. She became involved in genetics and received further training at Baylor College of Medicine. She is certified by the American Board of Medical Genetics in the specialty areas of Clinical Molecular Genetics and Biochemical Genetics. Dr. Wong served as the Director of the Molecular Diagnostic Laboratory at Childrens Hospital Los Angeles and Georgetown University for 10 years before rejoining Baylor College of Medicine as a professor in the Department of Molecular and Human Genetics. There she heads the Mitochondrial/Metabolic Molecular Diagnostic Laboratory. Dr. Wong's research focuses on mitochondrial genetics and function in disease, aging, and cancer. She has published over 250 peer-reviewed articles, 13 book chapters, and edited 3 books.

Part I: overview.- 1. NGS, The new gold standard of identification of defective genes.- 2. Principles of target gene enrichments, pros and cons.- 3. Criteria for clinical application: Full validation and performance characteristics.- 4. Clinical requirements: variant interpretation, confirmation, and turnaround time.- Part II: Experiences in various applications.- 5. The metabolic pathways: GSD, CDG, cobalamin metabolism, and others.- 6. The eye gene panels.- 7. The otogenes.- 8. The immunodeficiency disorders.- 9. The bone density and skeletal related disorders.- 10.The hereditary cancer genes.- 11.The molecular diagnosis of cancers and implications in treatment: Marilyn Li.- 12. Neuromuscular disorders.- 13. The cardiac panel: YuXin Fan, GeneDx or Harvard Partner.- 14. The mitochondrial genome.- 15. The Nuclear Mitomes

Erscheinungsdatum	03.06.2017
Zusatzinfo	VIII, 364 p. 23 illus., 17 illus. in color.
Verlagsort	Cham
Sprache	englisch
Maße	155 x 235 mm
Gewicht	760 g
Themenwelt	Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
	Naturwissenschaften ► Biologie ► Genetik / Molekularbiologie
	Naturwissenschaften ► Biologie ► Mikrobiologie / Immunologie
Schlagworte	Bioinformatics • Biomedical and Life Sciences • Biostatistics • exome • Genetics • Genetics (non-medical) • genomics • Human genetics • Life sciences: general issues • medical genetics • Microbial Genetics and Genomics • Microbiology (non-medical) • mitochondrial • NGS
ISBN-10	3-319-56416-1 / 3319564161
ISBN-13	978-3-319-56416-6 / 9783319564166
Zustand	Neuware