Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative.
Cerebellar ataxia
Consensus
Genomics
High-throughput nucleotide sequencing
Information dissemination
Journal
Cerebellum (London, England)
ISSN: 1473-4230
Titre abrégé: Cerebellum
Pays: United States
ID NLM: 101089443
Informations de publication
Date de publication:
Apr 2024
Apr 2024
Historique:
accepted:
17
02
2023
pubmed:
5
3
2023
medline:
5
3
2023
entrez:
4
3
2023
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 36869969
doi: 10.1007/s12311-023-01537-1
pii: 10.1007/s12311-023-01537-1
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
391-400Investigateurs
Astrid Adarmes
(A)
Saud Alhusaini
(S)
Mahmoud Reza Ashrafi
(MR)
Luis Bataller
(L)
Enrico Bertini
(E)
Sylvia Boesch
(S)
Ronald Buijsen
(R)
Emanuel Cassou
(E)
Edwin Chan
(E)
Joana Damásio
(J)
Karina Donis
(K)
Ewelina Elert-Dobkowska
(E)
Liena Elsayed
(L)
Carmen Espinos
(C)
Haşmet Hanağasi
(H)
Morteza Heidari
(M)
Wolfgang Nachbauer
(W)
Jorge Oliveira
(J)
Puneet Opal
(P)
Coro Paisan-Ruiz
(C)
Hélène Puccio
(H)
Francesco Saccà
(F)
Maria Luiza Saraiva-Pereira
(ML)
Thorsten Schmidt
(T)
Rebecca Schüle
(R)
Giovanni Stevanin
(G)
Carlo Wilke
(C)
Grace Yoon
(G)
Neta Zach
(N)
Ginevra Zanni
(G)
Informations de copyright
© 2023. The Author(s).
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