Detection of aberrant gene expression events in RNA sequencing data

RNA sequencing (RNA-seq) has emerged as a powerful approach to discover disease-causing gene regulatory defects in individuals affected by genetically undiagnosed rare disorders. Pioneering studies have shown that RNA-seq could increase the diagnosis rates over DNA sequencing alone by 8–36%, dependi...

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Veröffentlicht in:	Nature protocols 2021-02, Vol.16 (2), p.1276-1296
Hauptverfasser:	Yépez, Vicente A., Mertes, Christian, Müller, Michaela F., Klaproth-Andrade, Daniela, Wachutka, Leonhard, Frésard, Laure, Gusic, Mirjana, Scheller, Ines F., Goldberg, Patricia F., Prokisch, Holger, Gagneur, Julien
Format:	Artikel
Sprache:	eng
Schlagworte:	631/114 631/208/199 Aberration Analytical Chemistry Base Sequence - genetics Biological Techniques Biomedical and Life Sciences Computational Biology/Bioinformatics Computer applications Data analysis Deoxyribonucleic acid Diagnosis Diagnostic Techniques and Procedures Disease - genetics DNA DNA sequencing Gene expression Gene Expression - genetics Gene Expression Profiling - methods Genetic disorders Genetic research Genetics High-Throughput Nucleotide Sequencing - methods Humans Life Sciences Microarrays Organic Chemistry Outliers (statistics) Protocol Quality assessment Quality control Ribonucleic acid RNA RNA - genetics RNA sequencing Sequence Analysis, RNA - methods Software Splicing Statistical methods Websites Workflow
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