GHGA Webinar: RNA-seq supported Mendelian Disease Diagnostics
- 28 Sep 2023
Over the last few years, sequencing the transcriptome emerged as a complementary path in the field of Mendelian disease diagnostics.
RNA sequencing allows to test directly the functional impact of variants and can further lead to the discovery of variants missed by DNA analysis.
In this webinar, we will present statistical methods that we have developed to find aberrations in the transcriptome, specifically to detect aberrant gene expression and splicing. These methods usually report only a handful of genes per sample and, in combination with rare variants from DNA and matching phenotype, allow to examine just the most relevant candidates. Finally, we will showcase specific examples of diagnosed cases and discuss limitations and future directions of this approach.
This webinar aims at early career researchers, clinicians, bioinformaticians and everyone working on transcriptome analysis, especially in the field of disease diagnostics.
The webinar will be held by Dr. Vicente Yépez (Technical University Munich), Co-Head of the RNA-seq working group of the SOLVE-RD project, and Dr. Christian Mertes (Technical University Munich), Postdoc at TUM and coordinator of the GHGA workflow workstream.
The event is in English and will be held on 28 September 2023, 16:00 CEST (available afterwards on demand). Attendance is free, but we ask for registration.