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Detecting Aberrant Expression in RNA-seq, a Hands-on Tutorial through Bioinformatics Tools and Workflows

Workshop run by Dr. Holger Prokisch (GENOMIT Scientific Coordinator) and Vicente Yépez (TUM, Munich) on June 18, 2020


18/06/2020   :   14h00
Online (via Microsoft Teams)
 Speakers: Dr. Holger Prokisch (GENOMIT Scientific Coordinator) and Vicente Yépez (TUM, Munich)
Publication : 18/06/2020
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Speakers: Dr. Holger Prokisch (GENOMIT Scientific Coordinator) and Vicente Yépez (TUM, Munich)

Abstract: Recent studies have shown the effectiveness of RNA-seq analysis for pinpointing new disease-causing genes and prioritizing variants of unknown significance in rare disease diagnostics. In this context, pipelines and new computational methods have been developed, but practical guidance on applying and combining such tools is missing. This hands-on workshop is designed to provide such guidance. The participants will learn how to use current methods to find expression outliers, splicing outliers and imbalanced allelic expression to pinpoint candidate pathogenic genes of interest in genetic disease patients. We will provide a user-friendly platform so that people without knowledge in programming are able to perform the exercises and benefit from this workshop. Moreover, even though the focus is on rare disease applications, the methods can also be useful for participants interested in finding aberrant RNA expression events in common diseases or cancer.

Due to current lockdown measures to fight against the spread of COVID-19, this seminar will be held online via Microsoft Teams. To register, please send an e-mail to Silvia.BOTTINI@univ-cotedazur.fr