Abstract
Genomic technologies are transforming health care, with next-generation sequencing providing an important tool that underpins diagnostics, gene discovery, and the mechanistic understanding of disease. 1 Rehm HL Evolving health care through personal genomics. Nat Rev Genet. 2017; 18: 259-267 Google Scholar However, next-generation sequencing has had limited success in bringing the power of genomic medicine to neurological disorders caused by pathogenic repeat expansions. 2 Ashley EA Towards precision medicine. Nat Rev Genet. 2016; 17: 507-522 Google Scholar The development of research tools to identify repeat expansions in next-generation sequencing data has begun to address this deficit. 3 Bahlo M Bennett MF Degorski P Tankard RM Delatycki MB Lockhart PJ Recent advances in the detection of repeat expansions with short-read next-generation sequencing. F1000Res. 2018; 7: 736 Google Scholar In The Lancet Neurology, Kristina Ibañez and colleagues 4 Ibañez K Polke J Hagelstrom RT et al. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study. Lancet Neurol. 2022; 21: 232-243 Google Scholar present compelling evidence of translation to clinical use, showing the utility of genome sequencing to diagnose neurogenetic repeat expansion disorders. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation studyIn our study, whole genome sequencing for the detection of repeat expansions showed high sensitivity and specificity, and it led to identification of neurological repeat expansion disorders in previously undiagnosed patients. These findings support implementation of whole genome sequencing in clinical laboratories for diagnosis of patients who have a neurological presentation consistent with a repeat expansion disorder. Full-Text PDF Open Access
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