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Ivo Barić on Muck Rack

Ivo Barić

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Articles

Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases

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By Ales Maver, Katja Lohmann, Astri Arnesen, Peter Bauer Verified, Kailash Bhatia, Sylvia Boesch, Norbert Brüggemann, Zih-hua Fang, Tobias B. Haack, Henry Houlden, Milena Jankovic, Erik-Jan Kamsteeg, Michelangelo Mancuso, Deborah Mascalzoni, Maria Molnar, Alexander Münchau, Kornelia Neveling, Ivana Novakovic, Borut Peterlin, Ludger Schöls, Nika Schuermans, Katie Shiels, Marc Sturm, Rachel Taylor, Lisenka E. L. M. Vissers, Victoria Williams, Holm Graessner, Lena-Marie Urbanczyk, Ivo Barić, Heinz Gabriel, Marina A. J. Tijssen
| Nature Verified
Abstract We recently established an external quality assessment (EQA) scheme for next-generation sequencing (NGS) diagnostics in rare neurological disorders (RND) in collaboration with the EMQN. The first assessment rounds revealed limitations and variability in the quality and completeness of genetic testing reports. To improve and harmonize reporting in NGS-based diagnostics for RND, we identified 28 topics requiring recommendations based on EQA findings.
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