Curated variation benchmarks for challenging medically relevant autosomal genes

  1. Wagner, J. 1
  2. Olson, N.D. 1
  3. Harris, L. 1
  4. McDaniel, J. 1
  5. Cheng, H. 2
  6. Fungtammasan, A. 3
  7. Hwang, Y.-C. 3
  8. Gupta, R. 3
  9. Wenger, A.M. 4
  10. Rowell, W.J. 4
  11. Khan, Z.M. 5
  12. Farek, J. 5
  13. Zhu, Y. 5
  14. Pisupati, A. 5
  15. Mahmoud, M. 5
  16. Xiao, C. 6
  17. Yoo, B. 7
  18. Sahraeian, S.M.E. 8
  19. Miller, D.E. 99
  20. Jáspez, D. 10
  21. Lorenzo-Salazar, J.M. 10
  22. Muñoz-Barrera, A. 10
  23. Rubio-Rodríguez, L.A. 10
  24. Flores, C. 101112
  25. Narzisi, G. 13
  26. Evani, U.S. 13
  27. Clarke, W.E. 13
  28. Lee, J. 14
  29. Mason, C.E. 15
  30. Lincoln, S.E. 16
  31. Miga, K.H. 17
  32. Ebbert, M.T.W. 181919
  33. Shumate, A. 2020
  34. Li, H. 2
  35. Chin, C.-S. 3
  36. Zook, J.M. 1
  37. Sedlazeck, F.J. 5
  38. Show all authors +
  1. 1 National Institute of Standards and Technology
    info

    National Institute of Standards and Technology

    Gaithersburg, Estados Unidos

    ROR https://ror.org/05xpvk416

  2. 2 Dana–Farber Cancer Institute
    info

    Dana–Farber Cancer Institute

    Boston, Estados Unidos

    ROR https://ror.org/02jzgtq86

  3. 3 DNAnexus, Inc.
  4. 4 Pacific Biosciences
  5. 5 Baylor College of Medicine
    info

    Baylor College of Medicine

    Houston, Estados Unidos

    ROR https://ror.org/02pttbw34

  6. 6 National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health
  7. 7 Genomic Medicine Center, Children’s Mercy Kansas City
  8. 8 Roche Sequencing Solutions
  9. 9 University of Washington
    info

    University of Washington

    Seattle, Estados Unidos

    ROR https://ror.org/00cvxb145

  10. 10 Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER)
  11. 11 Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias
    info

    Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias

    Madrid, España

  12. 12 Hospital Universitario Nuestra Señora de Candelaria
    info

    Hospital Universitario Nuestra Señora de Candelaria

    Santa Cruz de Tenerife, España

    ROR https://ror.org/005a3p084

  13. 13 New York Genome Center
    info

    New York Genome Center

    Nueva York, Estados Unidos

    ROR https://ror.org/05wf2ga96

  14. 14 Bionano Genomics
  15. 15 Department of Physiology and Biophysics, Weill Cornell Medicine
  16. 16 Invitae
  17. 17 University of California, Santa Cruz
    info

    University of California, Santa Cruz

    Santa Cruz, Estados Unidos

    ROR https://ror.org/03s65by71

  18. 18 Sanders-Brown Center on Aging, University of Kentucky
  19. 19 University of Kentucky
    info

    University of Kentucky

    Lexington, Estados Unidos

    ROR https://ror.org/02k3smh20

  20. 20 Johns Hopkins University
    info

    Johns Hopkins University

    Baltimore, Estados Unidos

    ROR https://ror.org/00za53h95

Journal:
Nature Biotechnology

ISSN: 1546-1696

Year of publication: 2022

Volume: 40

Issue: 5

Pages: 672-680

Type: Article

DOI: 10.1038/S41587-021-01158-1 PMID: 35132260 SCOPUS: 2-s2.0-85124358447 GOOGLE SCHOLAR
Data source: Scopus