Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders

For neurodevelopmental disorders (NDDs), a molecular diagnosis is key for management, predicting outcome, and counseling. Often, routine DNA-based tests fail to establish a genetic diagnosis in NDDs. Transcriptome analysis (RNA sequencing [RNA-seq]) promises to improve the diagnostic yield but has n...

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Veröffentlicht in:	American journal of human genetics Jg. 110; H. 2; S. 251
Hauptverfasser:	Dekker, Jordy, Schot, Rachel, Bongaerts, Michiel, de Valk, Walter G, van Veghel-Plandsoen, Monique M, Monfils, Kathryn, Douben, Hannie, Elfferich, Peter, Kasteleijn, Esmee, van Unen, Leontine M A, Geeven, Geert, Saris, Jasper J, van Ierland, Yvette, Verheijen, Frans W, van der Sterre, Marianne L T, Sadeghi Niaraki, Farah, Smits, Daphne J, Huidekoper, Hidde H, Williams, Monique, Wilke, Martina, Verhoeven, Virginie J M, Joosten, Marieke, Kievit, Anneke J A, van de Laar, Ingrid M B H, Hoefsloot, Lies H, Hoogeveen-Westerveld, Marianne, Nellist, Mark, Mancini, Grazia M S, van Ham, Tjakko J
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	United States 02.02.2023
Schlagworte:	Cycloheximide Gene Expression Profiling Humans Neurodevelopmental Disorders - diagnosis Neurodevelopmental Disorders - genetics RNA-Seq Sequence Analysis, RNA - methods RNA-sequencing transcriptomics molecular diagnostics mRNA splicing neurodevelopmental disorder web browser application
ISSN:	1537-6605, 1537-6605
Online-Zugang:	Weitere Angaben
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