Detection of aberrant gene expression events in RNA sequencing data

Vicente A. Yépez, Christian Mertes, Michaela F. Müller, Daniela Klaproth-Andrade, Leonhard Wachutka, Laure Frésard, Mirjana Gusic, Ines F. Scheller, Patricia F. Goldberg, Holger Prokisch, Julien Gagneur

Published: 2021-01-17 DOI: 10.1038/s41596-020-00462-5

RNA-seq

aberrant gene expression

DROP pipeline

diagnosis rates

statistical methods

AI 解读

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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 rate
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ACKNOWLEDGMENTS
ACKNOWLEDGMENTS

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Detection of aberrant gene expression events in RNA sequencing data

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