The Modellvorhaben Genomsequenzierung just started and the first genomes are piling up. Understanding variant penetrance in the era of large-scale federated sequencing is key in unlocking new disease associations. The agenda will feature talks from all NGS competence centers and workshops for all service providers (Leistungserbringer des MVGenomSeq).
Program
Preliminary program
Thursday, October 24
11:00–12:00 Screening of Posters in the Auditorium
12:00–12:45 Lunch Break and Opening of the Industrial Exhibition
12:45–13:00 Welcome and Opening of the Scientific Symposium (Peter Krawitz)
13:00-13:20 Udo Schimmel: AGD 40 Jahre
13:20–15:30 Session 1: German NGS competence centers (Highlights)
Session Chair: Joachim Schultze
13:20–13:30 Joachim Schultze, DZNE, Bonn
NGS-CN national initiative: Introduction
13:30–14:00 Christoph Kuppe, WGGC-A (Aachen)
Novel approaches to unlock molecular information from formalin-fixed tissues
14:00–14:30 Anna-Lena Börsch, DcGC (Dresden)
Role of the dura mater in chronic human multiple sclerosis – combining snRNA-seq and spatial transcriptomics
14:30–15:00 Caspar Gross, NCCT (Tübingen)
The Power of Long-Read Sequencing: Uncovering the Genetic Basis of Spinocerebellar Ataxia Type 4
15:00-15:30 Joana Pimenta Bernardes, CCGA (Kiel)
Large-scale sequencing studies of complex immune disorders: Are we on track for precision medicine?
15:30-15:45 PacBio
Updates on PacBio HiFi sequencing in human genomics
15:45–16:15 Coffee Break, Industrial Exhibition and Poster Viewing
16:15–18:30 Session 2: Highlights in Clinical Bioinformatics
Session Chair: Sebahattin Cirak
16:15–16:45 Dominik Seelow
Shortening the patient journey: a "holistic" approach to unravel rare diseases
16:45–17:15 Johannes Köster, UK Essen / WGGC
Uncertainty aware and scenario agnostic genomic variant calling
17:15–17:45 Arnab Bandyopadhyay
Swarmifying GestaltMatcher – Data Visiting Principles in Rare Diseases
17:45–18:15 Kjong Lehmann, UK Aachen
Challenges in molecular profiling of cancer patients
18:15–18:30 element biosciences
Integrated Multiomic and Genomic Profiling for Precision Biology on the AVITI24 platform
18:30–19:30 Andreas Till (BfArM)
The Model Project GenomSeq: Status, Perspective and Challenges
19:30–20:00 Buffet, Opening Networking Mixer (exhibitors are invited) + Game Night
Friday, October 25
8:30–10:30 Session 3: Genomeprojects
Session Chair: Ingo Kurth
08:30–09:00 Alban Lermine
Whole Genome sequencing in a care context, the SeqOIA Medical Biology Laboratory
09:00–09:30 Fabian Brand
Federated gnomAD
09:30–10:00 Uirá Souto
Accurate detection of pathogenic structual variants guided by multiplatform comparison
10:00-10:15 Takara
A novel nanowell-based approach to high throughput single cell analysis
10:15–11:00 Watchmakergenomics
Modernizing NGS Library Prep with sensitive and scalable DNA and RNA solutions
10:30–11:00 Coffee Break, Industrial Exhibition and Poster Viewing
