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Krenn, M.* ; Tomschik, M.* ; Rath, J.* ; Cetin, H.* ; Grisold, A.* ; Zulehner, G.* ; Milenkovic, I.* ; Stogmann, E.* ; Zimprich, A.* ; Strom, T.M. ; Meitinger, T. ; Wagner, M. ; Zimprich, F.*

Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: Experiences with a two-step approach.

Eur. J. Neurol. 27, 51-61 (2020)
Verlagsversion Forschungsdaten DOI PMC
Open Access Hybrid
Creative Commons Lizenzvertrag
Background and purpose Next-generation sequencing has greatly improved the diagnostic success rates for genetic neuromuscular disorders (NMDs). Nevertheless, most patients still remain undiagnosed, and there is a need to maximize the diagnostic yield. Methods A retrospective study was conducted on 72 patients with NMDs who underwent exome sequencing (ES), partly followed by genotype-guided diagnostic reassessment and secondary investigations. The diagnostic yields that would have been achieved by appropriately chosen narrow and comprehensive gene panels were also analysed. Results The initial diagnostic yield of ES was 30.6% (n = 22/72 patients). In an additional 15.3% of patients (n = 11/72) ES results were of unknown clinical significance. After genotype-guided diagnostic reassessment and complementary investigations, the yield was increased to 37.5% (n = 27/72). Compared to ES, targeted gene panels (<25 kilobases) reached a diagnostic yield of 22.2% (n = 16/72), whereas comprehensive gene panels achieved 34.7% (n = 25/72). Conclusion Exome sequencing allows the detection of pathogenic variants missed by (narrowly) targeted gene panel approaches. Diagnostic reassessment after genetic testing further enhances the diagnostic outcomes for NMDs.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Diagnostic Reassessment ; Diagnostic Yield ; Exome Sequencing ; Gene Panels ; Neuromuscular Disorders ; Next-generation Sequencing; Clinical Exome; Genetic Diagnosis; Medical Genetics; Utility
Sprache englisch
Veröffentlichungsjahr 2020
Prepublished im Jahr 2019
HGF-Berichtsjahr 2019
ISSN (print) / ISBN 1351-5101
e-ISSN 1468-1331
Zeitschrift European Journal of Neurology
Quellenangaben Band: 27, Heft: 1, Seiten: 51-61 Artikelnummer: , Supplement: ,
Verlag Wiley
Verlagsort 111 River St, Hoboken 07030-5774, Nj Usa
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-500700-001
Förderungen Austrian Society of Epileptology (_OGfE)
Austrian Society of Neurology (_OGN)
DOI 10.1111/ene.14033
WOS ID WOS:000618739100009
WOS ID WOS:000480677800001
Scopus ID 85070718606
PubMed ID 31407473
Erfassungsdatum 2019-09-18
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