Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/123332
Citations | ||
Scopus | Web of Science® | Altmetric |
---|---|---|
?
|
?
|
Type: | Journal article |
Title: | Genome sequencing in persistently unsolved white matter disorders |
Author: | Helman, G. Lajoie, B.R. Crawford, J. Takanohashi, A. Walkiewicz, M. Dolzhenko, E. Gross, A.M. Gainullin, V.G. Bent, S.J. Jenkinson, E.M. Ferdinandusse, S. Waterham, H.R. Dorboz, I. Bertini, E. Miyake, N. Wolf, N.I. Abbink, T.E.M. Kirwin, S.M. Tan, C.M. Hobson, G.M. 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. |
Keywords: | Humans Registries Pedigree Adolescent Child Child, Preschool Female Male Leukoencephalopathies Whole Genome Sequencing |
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. |
DOI: | 10.1002/acn3.50957 |
Grant ID: | http://purl.org/au-research/grants/nhmrc/1068278 |
Published version: | http://dx.doi.org/10.1002/acn3.50957 |
Appears in Collections: | Aurora harvest 4 Medicine publications |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
hdl_123332.pdf | Published version | 462.82 kB | Adobe PDF | View/Open |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.