Genome sequencing in persistently unsolved white matter disorders.
Journal
Annals of clinical and translational neurology
ISSN: 2328-9503
Titre abrégé: Ann Clin Transl Neurol
Pays: United States
ID NLM: 101623278
Informations de publication
Date de publication:
01 2020
01 2020
Historique:
received:
01
10
2019
revised:
05
11
2019
accepted:
05
11
2019
pubmed:
9
1
2020
medline:
2
2
2021
entrez:
9
1
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31912665
doi: 10.1002/acn3.50957
pmc: PMC6952322
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
144-152Subventions
Organisme : Australian National Health and Medical Research Council
ID : 1068278
Pays : International
Organisme : CIHR
Pays : Canada
Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.
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