Latest / Weekly Neurology Deep Dive - A review of recent impactful publications in the field of Neurology
Augmenting Diagnostic Yield From Genomic Testing in Neurological Diseases
Despite the high utility of clinical genome sequencing (GS) in diagnosing rare neurological disorders, a significant proportion of patients remain molecularly unsolved or receive results involving variants of uncertain significance (VUS). To bridge this diagnostic gap, neurologists should employ a multi-modal strategy incorporating targeted functional studies and systematic data reanalysis. When DNA sequencing identifies potentially spliceogenic variants, targeted RNA analysis using whole blood serves as an effective surrogate for inaccessible nervous tissue, enabling the reclassification of…
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