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Original article
New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)
  1. Marielle E Van Gijn1,
  2. Isabella Ceccherini2,
  3. Yael Shinar3,
  4. Ellen C Carbo1,
  5. Mariska Slofstra4,
  6. Juan I Arostegui5,
  7. Guillaume Sarrabay6,
  8. Dorota Rowczenio7,
  9. Ebun Omoyımnı8,
  10. Banu Balci-Peynircioglu9,
  11. Hal M Hoffman10,
  12. Florian Milhavet6,
  13. Morris A Swertz4,
  14. Isabelle Touitou6
  1. 1 Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
  2. 2 UOC Medical Genetics, Giannina Gaslini Institute, Genova, Italy
  3. 3 Laboratory of FMF, Amyloidosis and Rare Autoinflammatory Diseases, Sheba Medical Center, Tel Hashomer, Israel
  4. 4 Genomics Coordination Center, Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands
  5. 5 Department of Immunology, Hospital Clinic-IDIBAPS, Barcelona, Spain
  6. 6 Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier University, INSERM U1183, Montpellier, France
  7. 7 National Amyloidosis Centre, Division of Medicine, UCL, Royal Free Hospital, London, UK
  8. 8 Great Ormond Street Institute of Child Health (ICH), University College London, London, UK
  9. 9 Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey
  10. 10 Department of Pediatrics, University of California, San Diego, California, USA
  1. Correspondence to Dr Marielle E Van Gijn, Department of Genetics, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands; m.e.vangijn{at}umcutrecht.nl

Footnotes

  • MEVG, IC and YS contributed equally.

  • Contributors Design of the study: MEVG, IT, MAS and IC; design of databases: ECC, MS, MAS and FM. Data analysis: IT, MEVG, MS and ECC. Classifying variants: MEVG, IC, YS, JIA, GS, DR, EO, BP, HMH and IT. Writing the manuscript: IT, MEVG, IC and YS; revising the manuscript: JIA, DR, EO, MAS and HMH; all authors approved the manuscript.

  • Funding This study is part of the INSAID project funded by an E-Rare-3 program, grant number 9003037603. BBMRI-NL is a research infrastructure financed by the Netherlands Organization for Scientific Research (NWO), grant number 184.033.111. CORBEL is an ESFRI cluster project in the European Union’s Horizon 2020 research and innovation programme under grant agreement no. 654248. RD-Connect has received funding from the European Union Seventh Framework Programme (FP7/2007–2013) under grant agreement no. 305,444 (RD-Connect).

  • Competing interests None declared.

  • Patient consent Detail has been removed from this case description/these case descriptions to ensure anonymity. The editors and reviewers have seen the detailed information available and are satisfied that the information backs up the case the authors are making.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement The datasets generated and/or analysed during the current study are available in the MOLGENIS repository at http://molgenis.org/said/ and the INFEVERS repository at https://fmf.igh.cnrs.fr/ISSAID/infevers/. MOLGENIS software is available for reuse at http://github.com/molgenis/molgenis

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Footnotes

  • MEVG, IC and YS contributed equally.

  • Contributors Design of the study: MEVG, IT, MAS and IC; design of databases: ECC, MS, MAS and FM. Data analysis: IT, MEVG, MS and ECC. Classifying variants: MEVG, IC, YS, JIA, GS, DR, EO, BP, HMH and IT. Writing the manuscript: IT, MEVG, IC and YS; revising the manuscript: JIA, DR, EO, MAS and HMH; all authors approved the manuscript.

  • Funding This study is part of the INSAID project funded by an E-Rare-3 program, grant number 9003037603. BBMRI-NL is a research infrastructure financed by the Netherlands Organization for Scientific Research (NWO), grant number 184.033.111. CORBEL is an ESFRI cluster project in the European Union’s Horizon 2020 research and innovation programme under grant agreement no. 654248. RD-Connect has received funding from the European Union Seventh Framework Programme (FP7/2007–2013) under grant agreement no. 305,444 (RD-Connect).

  • Competing interests None declared.

  • Patient consent Detail has been removed from this case description/these case descriptions to ensure anonymity. The editors and reviewers have seen the detailed information available and are satisfied that the information backs up the case the authors are making.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement The datasets generated and/or analysed during the current study are available in the MOLGENIS repository at http://molgenis.org/said/ and the INFEVERS repository at https://fmf.igh.cnrs.fr/ISSAID/infevers/. MOLGENIS software is available for reuse at http://github.com/molgenis/molgenis

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