Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/123332
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Type: Journal article
Title: Genome sequencing in persistently unsolved white matter disorders
Author: Helman, G.
Lajoie, B.
Crawford, J.
Takanohashi, A.
Walkiewicz, M.
Dolzhenko, E.
Gross, A.
Gainullin, V.
Bent, S.
Jenkinson, E.
Ferdinandusse, S.
Waterham, H.
Dorboz, I.
Bertini, E.
Miyake, N.
Wolf, N.
Abbink, T.
Kirwin, S.
Tan, C.
Hobson, G.
et al.
Citation: Annals of Clinical and Translational Neurology, 2020; 7(1):144-152
Publisher: Wiley
Issue Date: 2020
ISSN: 2328-9503
2328-9503
Statement of
Responsibility: 
Guy Helman, Bryan R. Lajoie, Joanna Crawford, Asako Takanohashi, Marzena Walkiewicz ... Stephen J. Bent ... et al.
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 attributable to genome sequencing, including cases with small and large copy number variants (CNVs) and variants in deep intronic and technically difficult regions. Genome sequencing, in combination with other methodologies, achieved a diagnostic yield of 85% in this retrospective cohort.
Rights: © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
RMID: 1000013017
DOI: 10.1002/acn3.50957
Grant ID: http://purl.org/au-research/grants/nhmrc/1068278
Appears in Collections:Medicine publications

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