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Analysis of DNA sequence variants detected by high-throughput sequencing†

  1. David R. Adams1,2,*,
  2. Murat Sincan2,
  3. Karin Fuentes Fajardo1,
  4. James C. Mullikin5,‡,
  5. Tyler M. Pierson1,4,
  6. Camilo Toro1,
  7. Cornelius F. Boerkoel1,
  8. Cynthia J. Tifft1,3,
  9. William A. Gahl1,2,3,
  10. Tom C. Markello3

Article first published online: 28 FEB 2012

DOI: 10.1002/humu.22035

Issue

Human Mutation

Human Mutation

Special Issue: Focus on the NIH Undiagnosed Diseases Program

Volume 33, Issue 4, pages 599–608, April 2012

Additional Information

How to Cite

Adams, D. R., Sincan, M., Fuentes Fajardo, K., Mullikin, J. C., Pierson, T. M., Toro, C., Boerkoel, C. F., Tifft, C. J., Gahl, W. A. and Markello, T. C. (2012), Analysis of DNA sequence variants detected by high-throughput sequencing. Hum. Mutat., 33: 599–608. doi: 10.1002/humu.22035

Author Information

  1. 1

    NIH Undiagnosed Diseases Program, NIH, Bethesda, Maryland

  2. 2

    Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland

  3. 3

    Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland

  4. 4

    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland

  5. 5

    NIH Intramural Sequencing Center, National Human Genome Research Institute, NIH, Bethesda, Maryland

  1. ‡

    For the NISC Comparative Sequencing Program

*David Adams, 10 Center Drive, MSC 1851, 10/10C-103, NHGRI, NIH, Bethesda, Maryland 20892-1851

  1. †

    For the Focus on the NIH Undiagnosed Diseases Program

  2. ‡

    For the NISC Comparative Sequencing Program

Publication History

  1. Issue published online: 12 MAR 2012
  2. Article first published online: 28 FEB 2012
  3. Accepted manuscript online: 30 JAN 2012 12:00AM EST
  4. Manuscript Accepted: 2 DEC 2011
  5. Manuscript Received: 11 AUG 2011

Funded by

  • Intramural division of the National Human Genome Research Institute; the National Institute of Neurological Disorders and Stroke; the NIH Clinical Center; and the NIH Office of the Director

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