Standards of NGS data sharing and analysis in Ataxias: recommendations by the NGS Working Group of the Ataxia Global Initiative

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  • dc.contributor.author Beijer, Danique
  • dc.contributor.author Fogel, Brent L.
  • dc.contributor.author Beltran, Sergi
  • dc.contributor.author Danzi, Matt C.
  • dc.contributor.author Németh, Andrea H.
  • dc.contributor.author Züchner, Stephan
  • dc.contributor.author Synofzik, Matthis
  • dc.contributor.author AGI Ataxia NGS genomics, platforms Working Group
  • dc.date.accessioned 2023-05-23T06:11:53Z
  • dc.date.available 2023-05-23T06:11:53Z
  • dc.date.issued 2024
  • dc.description.abstract The Ataxia Global Initiative (AGI) is a worldwide multi-stakeholder research platform to systematically enhance trial-readiness in degenerative ataxias. The next-generation sequencing (NGS) working group of the AGI aims to improve methods, platforms, and international standards for ataxia NGS analysis and data sharing, ultimately allowing to increase the number of genetically ataxia patients amenable for natural history and treatment trials. Despite extensive implementation of NGS for ataxia patients in clinical and research settings, the diagnostic gap remains sizeable, as approximately 50% of patients with hereditary ataxia remain genetically undiagnosed. One current shortcoming is the fragmentation of patients and NGS datasets on different analysis platforms and databases around the world. The AGI NGS working group in collaboration with the AGI associated research platforms—CAGC, GENESIS, and RD-Connect GPAP—provides clinicians and scientists access to user-friendly and adaptable interfaces to analyze genome-scale patient data. These platforms also foster collaboration within the ataxia community. These efforts and tools have led to the diagnosis of > 500 ataxia patients and the discovery of > 30 novel ataxia genes. Here, the AGI NGS working group presents their consensus recommendations for NGS data sharing initiatives in the ataxia field, focusing on harmonized NGS variant analysis and standardized clinical and metadata collection, combined with collaborative data and analysis tool sharing across platforms.
  • dc.description.sponsorship Open Access funding enabled and organized by Projekt DEAL. This work was supported by the Horizon 2020 research and innovation programme (grant 779257 Solve-RD to MS and SB), and the European Joint Programme on Rare Diseases (grant 825575 EJP RD to SB) under the EJP RD COFUND-EJP No. 825575 (PROSPAX consortium, to MS and—as an associated partner—SZ). DB is supported by a Postdoctoral Fellowship from the Alexander von Humboldt Foundation.
  • dc.format.mimetype application/pdf
  • dc.identifier.citation Beijer D, Fogel BL, Beltran S, Danzi MC, Németh AH, Züchner S, et al. Standards of NGS data sharing and analysis in Ataxias: recommendations by the NGS Working Group of the Ataxia Global Initiative. Cerebellum. 2024 Apr;23(2):391-400. DOI: 10.1007/s12311-023-01537-1
  • dc.identifier.doi http://dx.doi.org/10.1007/s12311-023-01537-1
  • dc.identifier.issn 1473-4230
  • dc.identifier.uri http://hdl.handle.net/10230/56936
  • dc.language.iso eng
  • dc.publisher Springer
  • dc.relation.ispartof Cerebellum. 2024 Apr;23(2):391-400
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/779257
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/825575
  • dc.rights This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
  • dc.rights.accessRights info:eu-repo/semantics/openAccess
  • dc.rights.uri http://creativecommons.org/licenses/by/4.0/
  • dc.subject.keyword Consensus
  • dc.subject.keyword Genomics
  • dc.subject.keyword Cerebellar ataxia
  • dc.subject.keyword High-throughput nucleotide sequencing
  • dc.subject.keyword Information dissemination
  • dc.title Standards of NGS data sharing and analysis in Ataxias: recommendations by the NGS Working Group of the Ataxia Global Initiative
  • dc.type info:eu-repo/semantics/article
  • dc.type.version info:eu-repo/semantics/publishedVersion

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