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. 2022 Mar 23;13:821189. doi: 10.3389/fneur.2022.821189

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Copyright © 2022 Marsili, Duque, Bode, Kauffman and Espay.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Traditional genetic workup and possibilities derived from long-read sequencing. The traditional (current) genetic workup is not diagnostic in about 50% of cases; other 20% of unresolved cases are represented by variants of uncertain significance. LRS (when coupled with whole genome sequencing— WGS, namely LR-WGS) has the potential to diagnose up to 70% of currently unresolved cases. The remaining 25% of cases are diagnosed using targeted genetic panel sequencing (TGPS) and whole exome sequencing (WES), and 5% of cases are diagnosed by WGS. Data derived from Salinas et al. (104) and Frésard et al. (119). Created with BioRender.com.