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Detecting false-positive signals in exome sequencing†

  1. Karin V. Fuentes Fajardo1,
  2. David Adams1,2,
  3. NISC Comparative Sequencing Program3,
  4. Christopher E. Mason4,5,
  5. Murat Sincan2,
  6. Cynthia Tifft1,2,
  7. Camilo Toro1,
  8. Cornelius F Boerkoel1,
  9. William Gahl1,2,6,
  10. Thomas Markello6,*

Article first published online: 5 MAR 2012

DOI: 10.1002/humu.22033

Issue

Human Mutation

Human Mutation

Special Issue: Focus on the NIH Undiagnosed Diseases Program

Volume 33, Issue 4, pages 609–613, April 2012

Additional Information

How to Cite

Fuentes Fajardo, K. V., Adams, D., NISC Comparative Sequencing Program, Mason, C. E., Sincan, M., Tifft, C., Toro, C., Boerkoel, C. F., Gahl, W. and Markello, T. (2012), Detecting false-positive signals in exome sequencing. Hum. Mutat., 33: 609–613. doi: 10.1002/humu.22033

Author Information

  1. 1

    NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland

  2. 2

    Medical Genetics Branch, NHGRI, NIH, Bethesda, Maryland

  3. 3

    NIH Intramural Sequencing Center, NIH, Bethesda, Maryland

  4. 4

    Department of Physiology and Biophysics, Weill Medical College, Cornell University, New York, New York

  5. 5

    HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Medical College, Cornell University, New York, New York

  6. 6

    Office of the Clinical Director, NHGRI, NIH, Bethesda, Maryland

*Thomas C Markello, Medical Genetics Branch, NIH/NHGRI, 10 Center Drive, Building 10/10C103, Bethesda, MD 20892

  1. †

    For the Focus on the NIH Undiagnosed Diseases Program

Publication History

  1. Issue published online: 12 MAR 2012
  2. Article first published online: 5 MAR 2012
  3. Accepted manuscript online: 31 JAN 2012 12:00AM EST
  4. Manuscript Accepted: 2 DEC 2011
  5. Manuscript Received: 11 AUG 2011

Funded by

  • NHGRI intramural funding; UDP program through the office of the Director NIH

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Additional Supporting information may be found in the online version of this article

FilenameFormatSizeDescription
S4_Base-pair_exclusion_list.txt488KSupporting Information
S1_heterozygous_nonref.txt10KSupporting Information
S2_heterozygous_nonref_2.txt465KSupporting Information
S3_homozygous_nonref.txt24KSupporting Information
Table_S1_empiric_final.txt3KSupporting Information
Table_S2_ten_in_ten_families_final.txt0KSupporting Information
Table_S3_ten_in_twenty_families_final.txt0KSupporting Information
Table_S4_ten_in_all_families_final.txt0KSupporting Information
Table_S5_pseudogenes_final.txt14KSupporting Information
Table_S6_ten_in_more_than_3_of_27_final.txt1KSupporting Information
Table_S7_gene_exclusion_list_final.txt17KSupporting Information
humu_22033_sm_Table_S8.pdf105KSupporting Information
Table_S9_final.xls5698KSupporting Information
Table_S9_legends_final.pdf562KSupporting Information
Supp_Mat-key_humu_22033_readme_R3.pdf77KSupporting Information

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