Coverart for item
The Resource Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, edited by Lee-Jun C. Wong, (electronic resource)

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, edited by Lee-Jun C. Wong, (electronic resource)

Label
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders
Title
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders
Statement of responsibility
edited by Lee-Jun C. Wong
Contributor
Editor
Subject
Language
eng
Summary
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
Is part of
Image bit depth
0
Literary form
non fiction
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, edited by Lee-Jun C. Wong, (electronic resource)
Label
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, edited by Lee-Jun C. Wong, (electronic resource)
Link
http://libproxy.rpi.edu/login?url=http://dx.doi.org/10.1007/978-3-319-56418-0
Publication
Related Contributor
Related Location
Related Agents
Related Authorities
Related Subjects
Antecedent source
mixed
Carrier category
online resource
Carrier category code
cr
Carrier MARC source
rdacarrier
Color
not applicable
Content category
text
Content type code
txt
Content type MARC source
rdacontent
Contents
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
http://library.link/vocab/cover_art
https://contentcafe2.btol.com/ContentCafe/Jacket.aspx?Return=1&Type=S&Value=9783319564180&userID=ebsco-test&password=ebsco-test
Dimensions
unknown
http://library.link/vocab/discovery_link
{'f': 'http://opac.lib.rpi.edu/record=b4258197'}
Extent
VIII, 364 p. 23 illus., 17 illus. in color.
File format
multiple file formats
Form of item
electronic
Isbn
9783319564180
Level of compression
uncompressed
Media category
computer
Media MARC source
rdamedia
Media type code
c
Other physical details
online resource.
Quality assurance targets
absent
Reformatting quality
access
Specific material designation
remote

Library Locations

    • Folsom LibraryBorrow it
      110 8th St, Troy, NY, 12180, US
      42.729766 -73.682577
Processing Feedback ...