Author:
Beijer Danique,Fogel Brent L.,Beltran Sergi,Danzi Matt C.,Németh Andrea H.,Züchner Stephan,Synofzik Matthis,Adarmes Astrid,Alhusaini Saud,Ashrafi Mahmoud Reza,Bataller Luis,Bertini Enrico,Boesch Sylvia,Buijsen Ronald,Cassou Emanuel,Chan Edwin,Damásio Joana,Donis Karina,Elert-Dobkowska Ewelina,Elsayed Liena,Espinos Carmen,Hanağasi Haşmet,Heidari Morteza,Nachbauer Wolfgang,Oliveira Jorge,Opal Puneet,Paisan-Ruiz Coro,Puccio Hélène,Saccà Francesco,Saraiva-Pereira Maria Luiza,Schmidt Thorsten,Schüle Rebecca,Stevanin Giovanni,Wilke Carlo,Yoon Grace,Zach Neta,Zanni Ginevra,
Abstract
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.
Funder
Universitätsklinikum Tübingen
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Cited by
2 articles.
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