Interactive Workshop – RNA-seq for Mendelian Diseases Diagnostics

A Hands-on Tutorial through Bioinformatic Tools and Workflows

October 12,  10:00AM – 12:00PM

This event is part of the ASHG Annual Meeting 2019 – Houston, TX

Over the last years, RNA-seq has emerged as a complementary approach for Mendelian disease diagnostics for patients in whom DNA sequencing is inconclusive. Recent studies have shown the effectiveness of RNA-seq and its use in pinpointing new disease-causing genes and prioritizing variants of unknown significance. 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 for bioinformaticians as well as clinicians, through a standard RNA-seq based analysis in the context of rare disease gene discovery. The participants will learn how to use current methods to find expression outliers, splicing outliers, and imbalanced allelic expression to pinpoint genes of interest in Mendelian disease patients, and how to interpret the output of those tools. Moreover, participants will reevaluate and prioritize variants of unknown significance by overlapping them with RNA-seq results to find new candidate genes. Finally, the participants will learn how to visualize complex and high dimensional raw data and results derived from RNA-seq data. Overall, the goal of this workshop is to highlight the benefits of RNA-seq for Mendelian diseases diagnostics and enable the participants to use recent software for this purpose. We will provide a user friendly platform so that people without knowledge in programming are able to perform the exercises.

Intended Audience: This workshop is tailored to bioinformaticians as well as clinicians who are working in the field of rare disease diagnostics, but also to any other person interested in finding rare variants with high impact in RNA-seq data.

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