Author Archives: ellen thomassen

20-23 April 2015 – ‘NGS Course; next-generation sequencing in a diagnostic setting’

A 4-day course on NGS in Prague was organized in collaboration with the “National coordination centre for rare diseases at University Hospital Motol” in the period of 20-23 April 2015. The focus of the course was on clinical diagnostics using exome/genome sequences, variant identification and analysis including afternoon practicals (practicals are fully booked). The programme is available here. There were 146 registrations and the practicals were fully booked (32).

22 April 2015 – ‘3Gb-TEST Central and Eastern European Regional Meeting’

On april 22nd 2015 the 3Gb-TEST Central and Eastern European Regional Meeting will be held in the Cinema Hall of the Hotel Pyramida in Prague – Czech Republic. The organization is done in collaboration with the “National coordination centre for rare diseases at University Hospital Motol”

GENOTRANSLATION:  INTERPRETATION OF GENOME DATA IN DIAGNOSTICS 
18.15 – 21.00 (venue opens at 17.30)
Programme is available as well as a meeting report.

19 March 2015 – Regional Meeting Lund

“(WGS) NGS as tool in diagnostics”
On the 19th of March a regional meeting on whole genome sequencing; “(WGS) NGS as tool in diagnostics”, was organised at the University Hospital in Lund, Sweden. For the programme of this meeting click here. The meeting was finalized with a group discussion on a practical work flow. For an abstract on the presentations and meeting look here.

Publications

BOCCIA S., MC KEE M., ADANY R., BOFFETTA P., BURTON H., CAMBON-THOMSEN A., CORNEL M. C., GRAY M., JANI A., KNOPPERS B. M., KHOURY M. J., MESLIN E. M., VAN DUIJN C. M., VILLARI P., ZIMMERN R., CESARIO A., PUGGINA A., COLOTTO M., RICCIARDI W. Beyond Public Genomics: proposals from an International Working Group. Eur J Public Health 2014. doi: 1093/eurpub/cku142

CAMBON-THOMSEN A. Acteurs et outils de la prédiction génétique : l’éthique au cœur de la gouvernance Journal international de bioéthique et d’éthique des sciences, 2014, vol. 25, n° 2, 165-174 [following a presentation at a specialised ethics meeting in Nice, in March 2014]