Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

  • Lee-Jun C. Wong

Table of contents

  1. Front Matter
    Pages i-viii
  2. Elizabeth B. Gorman, Lee-Jun C. Wong
    Pages 23-49
  3. Xinjian Wang, Lisa Dyer, Kejian Zhang, John Greinwald Jr., C. Alexander Valencia
    Pages 71-87
  4. Lijun Wang, C. Alexander Valencia, Rebecca A. Marsh, Kejian Zhang
    Pages 89-112
  5. Allison Tam, Victor Wei Zhang, Lee Jun Wong, Sandesh C. S. Nagamani
    Pages 113-121
  6. Holly LaDuca, Shuwei Li, A. J. Stuenkel, Virginia Speare, Jill S. Dolinsky, Elizabeth C. Chao
    Pages 123-153
  7. Hui Mei, Hongzheng Dai, Jinglan Zhang, Lee-Jun Wong, Pilar L. Magoulas
    Pages 155-176
  8. Lijun Wang, Arunkanth Ankala, Hamoud Al Khallaf, Xinjian Wang, Mikhail Martchenko, Biao Dong et al.
    Pages 177-200
  9. Amy E. Knight Johnson, Siri Atma W. Greeley, Daniela del Gaudio
    Pages 201-242
  10. Guoliang Wang, Vivan Niewiadonski, Jianping Li, Ruirui Ji, Wenxin Zou, Daniel J. Penny et al.
    Pages 243-286
  11. Victor Wei Zhang, Lee-Jun C. Wong
    Pages 287-304
  12. Theodore Chiang, Magalie Leduc, Mari Tokita, Teresa Santiago-Sim, Yaping Yang
    Pages 305-320
  13. Xia Wang, Linyan Meng, Magalie S. Leduc
    Pages 321-338
  14. Anastasia Fedick, Jinglan Zhang
    Pages 339-354
  15. Lisa Dyer, Xinjian Wang, Kejian Zhang, John Greinwald Jr., C. Alexander Valencia
    Pages E1-E1
  16. Back Matter
    Pages 355-364

About this book


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.


NGS bioinformatics exome genetics genomics mitochondrial

Editors and affiliations

  • Lee-Jun C. Wong
    • 1
  1. 1.Molecular Diagnostic LaboratoryBaylor College of MedicineHoustonUSA

Bibliographic information