Genome sequencing in persistently unsolved white matter disorders
Volume: 7, Issue: 1, Pages: 144 - 152
Published: Jan 1, 2020
Abstract
Genetic white matter disorders have heterogeneous etiologies and overlapping clinical presentations. We performed a study of the diagnostic efficacy of genome sequencing in 41 unsolved cases with prior exome sequencing, resolving an additional 14 from an historical cohort (n = 191). Reanalysis in the context of novel disease-associated genes and improved variant curation and annotation resolved 64% of cases. The remaining diagnoses were directly...
Paper Details
Title
Genome sequencing in persistently unsolved white matter disorders
Published Date
Jan 1, 2020
Volume
7
Issue
1
Pages
144 - 152
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