GHGA Webinar: Rare Disease Diagnostics in Complex Genomic Regions with Long Reads
- 10 Oct 2024
In this webinar Stephan Ossowski shares his experience using bioinformatics analysis of Nanopore LR-GS data for rare disease diagnostics. This includes development as well as application of tools and pipelines for SNV, indel and SV detection, haplotype phasing, length estimation for repeat expansions, genotyping in duplicate genes and haplotype-specific DNA methylation analysis. He will also discuss the quality criteria and benchmarking efforts that he and his group are putting in place.
This webinar is aimed at early career researchers, clinicians, bioinformaticians and everyone working with or interested in long-read sequencing.
The webinar will be held by Prof. Dr. Stephan Ossowski from the University Clinic Tübingen.
The event is in English, it takes approx. 60 minutes and will be held on 10th October 2024, 14:00 CEST (available afterwards on demand). Attendance is free, but we ask for registration.