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Event - EuroGentest Satellite meeting: Innovative Techniques in Genome Diagnostics

When

Sunday 13 June 2010 at 10.15 until 12.30

Where

At ESHG Hall G1 + G2
Gothenburg
Website of VenueExit this website
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What

EuroGentest invites you to attend our meeting on new and emerging techniques in diagnostics.

In short we will present:

  • The latest developments in Next Generation Sequencing and its potential applications in diagnostics
  • Validation  of two novel Fragile X  PCR Reagents  for diagnostic detection of CGG repeat lengths in FMR1 as well as its methylation status.
  • Molecular Combing for Direct Visualization of FSHD Associated Haplotypes on multiple and independent DNA Molecules
  • Highly Robust and Convenient DNA mutation detection in Diagnostics using Dynamic Hybridisation Micro-Arrays.

Program

10:15- 10:20 EuroGentest Unit 5 introduction: Call for new Technology
Nienke van der Stoep (EuroGentest Unit 5, NL)
10:20- 10:40 Molecular Combing for Direct Visualization of FSHD Associated Haplotypes on multiple and independent DNA Molecules.
Nicolas Levy (Inserm, FR)
10:40- 11:00 Validation of two new PCR technologies for diagnostic testing of the Fragile X CGG repeat as well as FMR1 methylation status.
Elles Boon (LUMC, NL)
11:00- 11:20 Highly Robust and Convenient DNA Diagnostics by Dynamic Hybridisation Micro-Arrays.
Anthony J. Brookes, (University of Leicester, UK)
11:20- 11:40 NMD-chip; a European project towards the development of CGH and sequence capture arrays for high throughput diagnosis and gene identification in Neuromuscular diseases.
Nicolas Levy (Inserm, FR)
11:40- 12:00 TECHGENE: Enrichment strategies for NGS: application in hereditary movement disorders including ataxias and paraplegias, and hereditary blindness.
Kornelia Neveling (UMCN, NL)
12:00- 12:20 TECHGENE: The data analysis challenge in NGS.
Christian Gilissen (UMCN, NL)
12:20- 12:30 Concluding remarks
Bert Bakker (Unit 5 co-leader EuroGentest, NL)

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



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