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Next Generation Sequencing

in Clinical Diagnostics

4 April, 2014

Rudbeck Laboratory, Uppsala

Sweden

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SciLifeLab and Uppsala University Hospital jointly organize the symposium

Next-Generation Sequencing in Clinical Diagnostics 4 April, 2014.

Internationally recognized clinicians and scientists will give state-of-the-art

lectures and provide examples how next-generation sequencing can be

applied in the diagnostic setting. The symposium will cover next-generation

sequencing in diagnostics of cancer, hematological malignancies and

inherited diseases. The diagnostic and bioinformatic challenges as well as

ethical questions, such as reporting of incidental findings, will also be

discussed. The newly established national SciLifeLab Clinical Sequencing

Facility will also report on its current and planned activities.

The overall aim of this open symposium is to give important insights how

next-generation sequencing can be transferred into the health-care system,

but also to discuss future directions within this rapidly progressing and very

promising field.

The symposium will be held at Rudbeck Laboratory in Uppsala.

Welcome!

For the Clinical Sequencing Facility,

Richard Rosenquist Brandell

Johan Rung

Platform director

Facility Manager

Application Deadline: March 20, 2014

For registration, updated information about the event, including practical

information please visit:

http://www.scilifelab.se/events/next-generation-sequencing-in-clinical-diagnostics/

The symposium is free of charge (on a first come basis).

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8.00-9.00 Registration

9.00-9.10 Welcome

9.10-9.30 SciLifeLab & Uppsala University Hospital Kerstin Lindblad-Toh Sune Larsson, Uppsala 9.35-9.55 History of sequencing Ulf Pettersson, Uppsala 10.00-10.15 Clinical Sequencing Facility Richard Rosenquist,

Uppsala

10.15-10.45 Coffee

10.45-11.00 Facility activities in solid tumors Johan Botling, Uppsala 11.00-11.40 Insights into the architecture of cancer Martin Peifer, Cologne

genomes by massively parallel sequencing

11.45-12.05 NGS in pheochromocytoma and other Joakim Crona, Uppsala

endocrine tumors

12.10-12.30 Targeted next-generation sequencing in Lotte Moens, Uppsala solid tumors

12.30-13.20 Lunch

13.20-13.35 Facility activities in hematology Lucia Cavelier, Uppsala 13.35-14.15 Amplicon next-generation deep-sequencing Alexander Kohlmann,

in a hematology diagnostics laboratory Munich

14.20-14.50 High-throughput studies of immune Kostas Stamatopoulos, repertoires in health and disease Thessaloniki

14.55-15.15 RNA-sequencing in pediatric ALL Jessica Nordlund,

Uppsala

15.15-15.40 Coffee

Session I: Solid tumors (chair: Johan Botling) 

Session II: Hematological malignancies (chair: Lucia Cavelier

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15.40-15.55 Facility activities in inherited diseases Marie-Louise Bondeson,

Uppsala

15.55-16.35 Next-generation sequencing in genetic Marcel Nelen, Nijmegen diagnostics: how clinical research labs

are evolving

16.40-17.00 Exome sequencing for explorative Niklas Dahl, Uppsala diagnostics of Mendelian traits

17.05-17.35 Incidental findings from NGS data: Ulf Kristoffersson, Lund how to handle them?

17.40-17.55 Bioinformatic strategies in the new facility Johan Rung, Uppsala 17.55-18.00 Concluding remarks

18.30 Mingle at Navet BMC

For more information please contact:

Richard Rosenquist (richard.rosenquist@igp.uu.se) Johan Rung (johan.rung@scilifelab.uu.se)

References

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