rdf-syntax-grammar
mods:
  schema location: http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
  title info:
    title: Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders
  name:
    name part: Wong, Lee-Jun C.
    role:
      role term: editor.
  name:
    name part: SpringerLink (Online service)
  type of resource: text
  origin info:
    place:
      place term: gw
    date issued: 2017
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: electronic
    form: electronic resource
    reformatting quality: access
    form: remote
    extent: VIII, 364 p. 23 illus., 17 illus. in color. online resource.
  abstract: 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.
  table of 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.
  note: edited by Lee-Jun C. Wong.
  subject:
    topic: Life sciences
  subject:
    topic: Human genetics
  subject:
    topic: Biostatistics
  subject:
    topic: Microbial genetics
  subject:
    topic: Microbial genomics
  subject:
    topic: Life Sciences
  subject:
    topic: Microbial Genetics and Genomics
  subject:
    topic: Human Genetics
  subject:
    topic: Biostatistics
  related item:
    title info:
      title: Springer eBooks
  identifier: 9783319564180
  identifier: http://dx.doi.org/10.1007/978-3-319-56418-0
  record info:
    record creation date: 170515
    record change date: 20170904222947.0
    record identifier: 978-3-319-56418-0