Next-generation sequencing and bioinformatics in rare movement disorders. Michael Zech et al. Nat Rev Neurol 2024 1

https://phgkb.cdc.gov/PHGKB/phgHome.action?action=archive&date=01/15/2024 From the abstract: "In this Perspective, we outline multidimensional strategies for genetic diagnosis in patients with rare movement disorders. We examine bioinformatics tools and computational metrics that have been developed to facilitate accurate prioritization of disease-causing variants. Additionally, we highlight community-driven data-sharing and case-matchmaking platforms, which are designed to foster the discovery of new genotype–phenotype relationships. Finally, we consider how multiomic data integration might optimize diagnostic success by combining genomic, epigenetic, transcriptomic and/or proteomic profiling. "