Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders (eBook, PDF)

Redaktion: Wong, Lee-Jun C.

• Format: PDF

Produktbeschreibung

¿Will cover the diagnostic yields of various Next Generation Sequencing applications

Readers will learn the advantages and disadvantages of panels and whole exome sequencing as it relates to human genetic disease

Includes a look at future medically relevant exomes

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Produktdetails

• Verlag: Springer Nature Switzerland
• Seitenzahl: 364
• Erscheinungstermin: 15. Mai 2017
• Englisch
• ISBN-13: 9783319564180
• Artikelnr.: 53060813

Autorenporträt

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 mitochondrialgenetics and function in disease, aging, and cancer. She has published over 250 peer-reviewed articles, 13 book chapters, and edited 3 books.

Inhaltsangabe

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