Event - Satellite Meeting: "Innovative Techniques in Genome Diagnostics"

10:15- 10:25 EuroGentest Unit 5 introduction: Call for new Technology

• Nienke van der Stoep (EuroGentest Unit 5, NL)

10:25- 10:45 Technical evaluation of Alamut: "A decision-support software application for

molecular genetics"

• Andrew Deveraux (CM&MC Manchester, UK)

10:45- 11:05 "BRCA screening by HRM on the LightCycler®480"

• Tom Janssens, (Med. KU, BE)

11:05- 11:20 Methylation-sensitive High Resolution Melting (HRM) Analysis as a diagnostic tool for Beckwith-Wiedemann and Silver-Russell syndromes.

• Marielle Alders, (AMC, NL)

11:20- 11:35 Zoom-in Array-CGH: "A high-resolution technology to detect and characterize germline large rearrangements - Applications to BRCA1/BRCA2 genes."

• Etienne Rouleau (INSERM, FR)

11:35- 11:50 EMMA a new technique for simultaneous detection of point mutations and large scale rearrangements.

• Jérémie Weber (FLUIGENT, FR)

11:50- 12:05 Digital PCR performed on microfluidic chips for aneuploidy detection.

• Bernhard G Zimmermann/Marc Unger (Fluidigm Inc, USA)

12:05- 12:20 Nanofluidic-enabled single-molecule imaging for DNA analysis detection.

• Michael Boyce-Jacino (BioNanomatrix, Inc, USA)

12:20- 12.30 Concluding remarks

• Gert Matthijs/ Bert Bakker (Unit 5 leaders EuroGentest, NL)

For more information please contact Nienke van der Stoep, tel. 071-526 9832; nvdstoep@lumc.nl

• Intro EUGT Projects (Nienke Vanderstoep)
• Presentation: Technical evaluation of Alamut
• Presentation: BRCA screening by HRM on the LightCycler® 480 (Tom Janssens)
• Methylation analysis using High Resolution Melting Analysis (Marielle Alders)
• Presentation: Zoom-in Array-CGH
• Presentation: EMMA Enhanced Mismatch Mutation Analysis
• Presentation: Nanofluidic-enabled single-molecule imaging for DNA analysis
• Presentation: Microfluidic Digital PCR for CNV and Prenatal Aneuploidy Detection