Current studentsExisting staffContact us
 

Genome sequencing in persistently unsolved white matter disorders

Simple item page
dc.contributor.authorHelman, G.
dc.contributor.authorLajoie, B.R.
dc.contributor.authorCrawford, J.
dc.contributor.authorTakanohashi, A.
dc.contributor.authorWalkiewicz, M.
dc.contributor.authorDolzhenko, E.
dc.contributor.authorGross, A.M.
dc.contributor.authorGainullin, V.G.
dc.contributor.authorBent, S.J.
dc.contributor.authorJenkinson, E.M.
dc.contributor.authorFerdinandusse, S.
dc.contributor.authorWaterham, H.R.
dc.contributor.authorDorboz, I.
dc.contributor.authorBertini, E.
dc.contributor.authorMiyake, N.
dc.contributor.authorWolf, N.I.
dc.contributor.authorAbbink, T.E.M.
dc.contributor.authorKirwin, S.M.
dc.contributor.authorTan, C.M.
dc.contributor.authorHobson, G.M.
dc.contributor.authoret al.
dc.date.issued2020
dc.description.abstractGenetic 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.
dc.description.statementofresponsibilityGuy Helman, Bryan R. Lajoie, Joanna Crawford, Asako Takanohashi, Marzena Walkiewicz ... Stephen J. Bent ... et al.
dc.identifier.citationAnnals of Clinical and Translational Neurology, 2020; 7(1):144-152
dc.identifier.doi10.1002/acn3.50957
dc.identifier.issn2328-9503
dc.identifier.issn2328-9503
dc.identifier.orcidBent, S.J. [0000-0003-1563-2855]
dc.identifier.urihttp://hdl.handle.net/2440/123332
dc.language.isoen
dc.publisherWiley
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1068278
dc.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.
dc.source.urihttps://doi.org/10.1002/acn3.50957
dc.subjectHumans
dc.subjectRegistries
dc.subjectPedigree
dc.subjectAdolescent
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectFemale
dc.subjectMale
dc.subjectLeukoencephalopathies
dc.subjectWhole Genome Sequencing
dc.titleGenome sequencing in persistently unsolved white matter disorders
dc.typeJournal article
pubs.publication-statusPublished

Files

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
hdl_123332.pdf
Size:
462.82 KB
Format:
Adobe Portable Document Format
Description:
Published version
Download

Collections

Medicine publications