Industry programme

From data to diagnosis: variant assessment made efficient

-  Susanna Zucca, PhD and CSO of enGenome

Nie wieder Excel: NGS-Prozesse für Panel, Exom und Genom im LIMS komplett automatisiert
- Tim Rehfeldt (Dresden/DE)
- Nancy Wetterling (Dresden/DE)

Discrepancies Between Automated ACMG Classifications in Clinical Bioinformatics
- Dr. Erşen Kavak (Istanbul/TR)

Harnessing the world’s first open genomic community to power WGS reporting for rare diseases with Franklin by QIAGEN

-tba

Sample to insight: Proximity mapped read technology, the simplest path to a complete genome

“Data to insights: Bioinformatic Innovation for Long-Range Genomics and beyond”
- James Han, Vice President Bioinformatics, Illumina

“Proximity mapped read technology guides rare disease genetic discovery“
- Fritz Sedlazeck, Associate Professor at Baylor College of Medicine and adjunct Associate Professor at Rice University, USA:

Genetics meets bones: new possibilities and insights relevant to patient care

• “Pitfalls of genetic diagnostics in disorders of bone mineralization, particularly XLH” – Prof. Dr. Carsten Bergmann (Mainz)
• „When genes weaken bones – Clinical experience with XLH” Prof. Dr. Roland Kocijan (Wien)

Closing the Gaps: ONT Long-Read Sequencing for Accurate, Strain-Level Bacterial Metagenomics and Beyond

- Dr. Waldemar Seel, LIFE & BRAIN GmbH

Overview of technologies available for pharmacogenetic testing

- Dr. Per Hoffmann, LIFE & BRAIN GmbH

The power of positive: Leveraging TAPS+ methylation analysis to unlock simultaneous genomic and epigenomic profiling

- Rajat Roy, PhD (Senior Applications Scientist – EMEA), Watchmaker Genomics

Driving clinical insights with HiFi genomics: From innovation to integration

- Dr Sukhvinder Nicklen - Market Development Lead, EMEA, PacBio

- Professor Alexander Hoischen - Professor, Redboud University Medical Center

Expanding possibilities in NGS with Sequencing by Expansion (SBX) and KAPA HyperExome automated on AVENIO Edge

•    Automation of the KAPA HyperExome V2 Workflow on the AVENIO Edge System

– Christian Betz (Bioscientia)

•    Introducing Sequencing By Expansion (SBX)

– Bernd Timmermann (Roche Diagnostics)

Long reads in panel sequencing and beyond - How Oxford Nanopore Sequencing accesses hidden genes
- Dr. Alexander Vogel (Oxford/UK)

Long Reads, Clear Answers: ONT Sequencing of CYP21A2
- Dr. rer. nat. Marco Graf (Dortmund/DE)

Accelerating Clinical Insight: AI Integration Across the Genomic Analysis Workflow
- Philip Twiss, DipRCPath, Director of Clinical Science & Interpretation Services,
SeqOne (Cambridge/GB)