Arbeitsgemeinschaft für Gen-Diagnostik e.V.

Annual Meeting of the AGD + NGS-CN* 2025

*keeping with the old Rhineland tradition since 2024.

10./11. October

Guthrie's Next March: Towards Genomic Newborn Screening.

Where?

Universitätsclub Bonn, Konviktstraße 9, 53113 Bonn (in-person event only)

When?

October 10. and 11., 2025.

Program

Friday, October 10
08:30–12:00 NGS-CN Final Project Meeting
Private session
08:30–08:50 Check-In & Registration
09:00–09:30 Joachim Schultze, CCU/WGGC Bonn
Welcome and Opening of the NGS-CN Final Meeting
09:30–10:15 Jörn Walter, Universität des Saarlandes
Keynote Lecture
10:15–10:40 Deutsche Forschungsgemeinschaft - DFG
10:40–10:55 Break
10:55–11:35 Ana Pombo, MDC, Berlin
Keynote Lecture
11:40–12:05 Sören Franzenburg, CCA Kiel
Infrastructure & Network Expansion
12:05–13:00 Lunch Break and Opening of the Industrial Exhibition
13:00-13:15 Welcome and Opening of the Scientific Symposium - AGD
Peter Krawitz, IGSB Bonn
13:15–16:30 Session 1: German NGS competence network
Session Chair: Joachim Schultze, DZNE Bonn
Participants of the Annual AGD Meeting are welcome to join this session
13:15–13:45 Ezio Bonifacio, DcGc Dresden
Innovative Research Projects and Impact
13:45–14:15 Nicolas Casadei, NCCT Tübingen
Bioinformatics and Data Management
14:15–14:45 Dagmar Wieczorek, Klaus Pfeffer, WGGC/GTL Düsseldorf
Cooperation, Transfer & Dissemination
14:45–15:00 Biobreak
15:00–15:30 Michal-Ruth Schweiger, Thomas Krieg, WGGC/CCG Cologne
Future Prospects & Sustainable Success
15:30–16:00 Samuel Kroll, Illumina Sponsored Talk
Leveraging Multiomics Data and AI to Accelerate Precision Medicine
16:00–16:30 Bernd Timmermann, Roche Sponsored Talk
Sequencing by Expansion (SBX), a Versatile, High-Throughput Single Molecule Sequencing Technology for a Variety of Applications
16:30–17:00 Coffee Break, Industrial Exhibition and Poster Viewing
17:00–19:00 Session 2: Genomic Newborn Screening (gNBS)
Session Chair: Peter Krawitz, IGSB Bonn
17:00–17:30 Heiko Brennenstuhl, Uniklinikum Heidelberg
Building the gNBS Roadmap: From Technical Feasibility to National Implementation
17:30–18:00 Dalia Kasperaviciute, Genomics England UK
Update from the Generation Study: The Genomic Screening Study for Treatable Conditions in 100,000 Newborns in England
18:00–18:15 Ligia Mateiu, PacBio Sponsored Talk
Helping to Transform Newborn Screening with PacBio Long-Read Sequencing
18:15–18:30 Biobreak
18:30–19:30 Martina Cornel, University Medical Center Amsterdam
Keynote Lecture: Pros and Cons of DNA Testing in Public Health Newborn Screening Programs
19:30-22:00 Buffet, Opening Networking Mixer and Game Night
Saturday, October 11
08:30–10:45 Session 3: From Health Data to Clinically Useful AI
Session Chair: Sebahattin Cirak, Uniklinikum Ulm
08:30–09:00 Jun Cheng, DeepMind London
AlphaGenome: Advancing Regulatory Variant Effect Prediction with a Unified DNA Sequence Model
09:00–09:30 Sören Lukassen, BIH Charité Berlin
Explainable AI in Oncology: crossNN for Robust DNA Methylation-Based Tumor Diagnosis
09:30–09:45 Alicia He, New England Biolabs Sponsored Talk
Breaking Through Bias to Redefine Precision in Small RNA Library Prep
09:45–10:15 Henrike Heyne, Hasso-Plattner-Institut Leipzig
Predicting Epilepsy with Large-Scale Clinical Data
10:15–10:45 Anna Poetsch, TU Dresden
DNA language models to understand the biology of genomes
10:45–11:00 Rajat Roy, Watchmaker Sponsored Talk
The Power of Positive: TAPS Methylation Analysis Unlocks Comprehensive Tumor Multiomics
11:00–11:45 Coffee Break, Industrial Exhibition and Poster Viewing
11:45–13:00 Session 4: Update MV-GenomSeq – Current Status and Outlook
Session Chair: Jean Tori Pantel, RWTH Aachen
11:45–12:45 Panel discussion following impulse presentations
12:45–13:00 Jing Zhang, SPT Labtech Sponsored Talk
Automating NGS Library Prep on firefly® - Higher Throughput, Lower Complexity, Superior Data Quality
13:00–16:00 Closing, Buffet, Industrial Exhibition
13:30–14:45 Oral Presentations of Poster Prize Winners 2024 and Awards 2025
Chaired by Jean Tori Pantel, RWTH Aachen
14:45–15:00 Salma Pathan, 10x Genomics Sponsored Talk
From Sample to Discovery: Harnessing the 10x Genomics Toolkit
15:00–16:00 AGD General Assembly

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