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Ascari G, Rendtorff ND, De Bruyne M, et al. Long-Read Sequencing to Unravel Complex Structural Variants of . Front Cell Dev Biol. 2021;9:664317doi: 10.3389/fcell.2021.664317.
Ascari, G., Rendtorff, N. D., De Bruyne, M., De Zaeytijd, J., Van Lint, M., Bauwens, M., Van Heetvelde, M., Arno, G., Jacob, J., Creytens, D., Van Dorpe, J., Van Laethem, T., Rosseel, T., De Pooter, T., De Rijk, P., De Coster, W., Menten, B., Rey, A. D., Strazisar, M., Bertelsen, M., Tranebjaerg, L., & De Baere, E. (2021). Long-Read Sequencing to Unravel Complex Structural Variants of . Frontiers in cell and developmental biology, 9664317. https://doi.org/10.3389/fcell.2021.664317
Ascari, Giulia, et al. "Long-Read Sequencing to Unravel Complex Structural Variants of ." Frontiers in cell and developmental biology vol. 9 (2021): 664317. doi: https://doi.org/10.3389/fcell.2021.664317
Ascari G, Rendtorff ND, De Bruyne M, De Zaeytijd J, Van Lint M, Bauwens M, Van Heetvelde M, Arno G, Jacob J, Creytens D, Van Dorpe J, Van Laethem T, Rosseel T, De Pooter T, De Rijk P, De Coster W, Menten B, Rey AD, Strazisar M, Bertelsen M, Tranebjaerg L, De Baere E. Long-Read Sequencing to Unravel Complex Structural Variants of . Front Cell Dev Biol. 2021 Apr 21;9:664317. doi: 10.3389/fcell.2021.664317. eCollection 2021. PMID: 33968938; PMCID: PMC8097100.
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Front Cell Dev Biol. 2021 Apr 21;9:664317. doi: 10.3389/fcell.2021.664317. eCollection 2021.

Long-Read Sequencing to Unravel Complex Structural Variants of .

Frontiers in cell and developmental biology

Giulia Ascari, Nanna D Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Mattias Van Heetvelde, Gavin Arno, Julie Jacob, David Creytens, Jo Van Dorpe, Thalia Van Laethem, Toon Rosseel, Tim De Pooter, Peter De Rijk, Wouter De Coster, Björn Menten, Alfredo Dueñas Rey, Mojca Strazisar, Mette Bertelsen, Lisbeth Tranebjaerg, Elfride De Baere

Affiliations

  1. Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
  2. Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
  3. The Kennedy Center, Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  4. Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.
  5. Department of Ophthalmology, Antwerp University Hospital, Antwerp, Belgium.
  6. Great Ormond Street Hospital, London, United Kingdom.
  7. Moorfields Eye Hospital, London, United Kingdom.
  8. UCL Institute of Ophthalmology, London, United Kingdom.
  9. Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium.
  10. Department of Pathology, Ghent University Hospital, Ghent, Belgium.
  11. Department of Diagnostic Sciences, Ghent University, Ghent, Belgium.
  12. Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
  13. Neuromics Support Facility, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
  14. Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
  15. Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
  16. Department of Ophthalmology, Rigshospitalet-Glostrup, University of Copenhagen, Glostrup, Denmark.
  17. Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.

PMID: 33968938 PMCID: PMC8097100 DOI: 10.3389/fcell.2021.664317

Abstract

Inactivating variants as well as a missense variant in the centrosomal

Copyright © 2021 Ascari, Rendtorff, De Bruyne, De Zaeytijd, Van Lint, Bauwens, Van Heetvelde, Arno, Jacob, Creytens, Van Dorpe, Van Laethem, Rosseel, De Pooter, De Rijk, De Coster, Menten, Rey, Strazisar, Bertelsen, Tranebjaerg and De Baere.

Keywords: CEP78; cone-rod dystrophy with hearing loss; inherited retinal disease; long-read sequencing; single-cell gene expression analysis; structural variants

Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

References

  1. N Engl J Med. 2019 Jul 4;381(1):64-74 - PubMed
  2. PLoS One. 2014 Jan 08;9(1):e85150 - PubMed
  3. Genome Res. 2017 May;27(5):849-864 - PubMed
  4. Methods. 2010 Apr;50(4):262-70 - PubMed
  5. Genome Biol. 2019 Nov 20;20(1):246 - PubMed
  6. Proc Natl Acad Sci U S A. 2013 Oct 1;110(40):16139-44 - PubMed
  7. Bioinformatics. 2009 Jul 15;25(14):1754-60 - PubMed
  8. Sci Data. 2018 Oct 02;5:180199 - PubMed
  9. Bioinformatics. 2012 Nov 1;28(21):2747-54 - PubMed
  10. J Med Genet. 2017 Mar;54(3):190-195 - PubMed
  11. Nat Rev Cancer. 2015 Nov;15(11):639-52 - PubMed
  12. Nat Methods. 2018 Jun;15(6):461-468 - PubMed
  13. Nat Commun. 2020 May 13;11(1):2389 - PubMed
  14. Genet Med. 2018 Feb;20(2):202-213 - PubMed
  15. J Cell Sci. 2019 Feb 20;132(4): - PubMed
  16. J Med Genet. 2018 Feb;55(2):114-121 - PubMed
  17. J Med Genet. 2016 Sep;53(9):600-7 - PubMed
  18. Am J Hum Genet. 2014 Sep 4;95(3):285-93 - PubMed
  19. PLoS One. 2014 Dec 12;9(12):e113800 - PubMed
  20. Nat Biotechnol. 2016 May;34(5):525-7 - PubMed
  21. Genet Med. 2020 Jun;22(6):1079-1087 - PubMed
  22. Cell. 2020 Sep 17;182(6):1623-1640.e34 - PubMed
  23. J Med Genet. 2014 Jul;51(7):460-9 - PubMed
  24. Genome Biol. 2018 Feb 6;19(1):15 - PubMed
  25. Hum Mutat. 2020 May;41(5):998-1011 - PubMed
  26. N Engl J Med. 2019 Oct 24;381(17):1644-1652 - PubMed
  27. Hear Res. 2016 Mar;333:266-274 - PubMed
  28. Nat Genet. 2019 Apr;51(4):606-610 - PubMed
  29. Nucleic Acids Res. 2019 Feb 28;47(4):1605-1614 - PubMed
  30. Am J Hum Genet. 2016 Sep 1;99(3):770-776 - PubMed
  31. Genome Med. 2019 Nov 7;11(1):68 - PubMed
  32. Hum Mutat. 2018 Nov;39(11):1517-1524 - PubMed
  33. Genet Med. 2015 May;17(5):405-24 - PubMed
  34. Genet Med. 2017 Oct;19(10):1105-1117 - PubMed
  35. Am J Hum Genet. 2016 Sep 1;99(3):777-784 - PubMed
  36. Cilia. 2013 May 31;2(1):7 - PubMed
  37. Ophthalmic Genet. 2018 Aug;39(4):500-507 - PubMed
  38. J Cell Sci. 2016 Jul 15;129(14):2713-8 - PubMed
  39. Proc Natl Acad Sci U S A. 2013 Apr 2;110(14):5558-63 - PubMed
  40. Adv Exp Med Biol. 2019;1185:197-202 - PubMed
  41. Am J Hum Genet. 2020 Nov 5;107(5):802-814 - PubMed
  42. Bioinformatics. 2009 Nov 1;25(21):2865-71 - PubMed
  43. Am J Hum Genet. 2017 Jan 5;100(1):75-90 - PubMed
  44. Nature. 2020 Jul;583(7814):83-89 - PubMed
  45. Nat Commun. 2019 Apr 16;10(1):1784 - PubMed
  46. Sci Rep. 2019 Feb 4;9(1):1219 - PubMed
  47. Am J Hum Genet. 2007 May;80(5):931-7 - PubMed
  48. Genome Med. 2018 Dec 7;10(1):95 - PubMed
  49. Cell. 2009 Nov 13;139(4):663-78 - PubMed
  50. Bioinformatics. 2009 Aug 15;25(16):2078-9 - PubMed
  51. Nat Biotechnol. 2011 Dec 18;30(1):61-8 - PubMed
  52. Bioinformatics. 2018 Sep 15;34(18):3094-3100 - PubMed
  53. Trends Biotechnol. 2019 Sep;37(9):973-982 - PubMed
  54. Proc Natl Acad Sci U S A. 2015 Apr 28;112(17):5473-8 - PubMed
  55. Clin Genet. 2021 Feb;99(2):318-324 - PubMed
  56. PLoS One. 2016 Dec 22;11(12):e0168966 - PubMed
  57. Proc Natl Acad Sci U S A. 2017 May 16;114(20):E3984-E3992 - PubMed
  58. Ophthalmology. 2016 May;123(5):1143-50 - PubMed

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