Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

Detalles Bibliográficos
Autor Corporativo: SpringerLink (Online service)
Otros Autores: Wong, Lee-Jun C. (Editor )
Formato: eBook
Lenguaje:English
Publicado: Cham : Springer International Publishing : Imprint: Springer, 2017.
Edición:1st ed. 2017.
Materias:
Microbial genetics.
Microbial genomics.
Human genetics.
Biostatistics.
Microbial Genetics and Genomics.
Human Genetics.
Acceso en línea:https://doi.org/10.1007/978-3-319-56418-0
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020 |a 9783319564180 
024 7 |a 10.1007/978-3-319-56418-0  |2 doi 
040 |a Sistema de Bibliotecas del Tecnológico de Costa Rica 
245 1 0 |a Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders  |c edited by Lee-Jun C. Wong. 
250 |a 1st ed. 2017. 
260 # # |a Cham :  |b Springer International Publishing :  |b Imprint: Springer,  |c 2017. 
300 |a VIII, 364 p. 23 illus., 17 illus. in color.  |b online resource. 
336 |a text  |b txt  |2 rdacontent 
337 |a computer  |b c  |2 rdamedia 
338 |a online resource  |b cr  |2 rdacarrier 
505 0 |a 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. 
650 0 |a Microbial genetics. 
650 0 |a Microbial genomics. 
650 0 |a Human genetics. 
650 0 |a Biostatistics. 
650 1 4 |a Microbial Genetics and Genomics. 
650 2 4 |a Human Genetics. 
650 2 4 |a Biostatistics. 
700 1 |a Wong, Lee-Jun C.  |e editor. 
710 2 |a SpringerLink (Online service) 
773 0 |t Springer eBooks 
856 4 0 |u https://doi.org/10.1007/978-3-319-56418-0 

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