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Technology Seminar (19 May 2014)



Technology Seminar

Whole Exome Sequencing in Cognitive Genetics


Dr Céline Helsmoortel
Department of Medical Genetics, University of Antwerp

Targeted Sequencing on NGS - High Complexity Probe
Pools to Enable Enrichment Based Discovery,
Translational, and Clinical Research


Dr John Tan
Senior Scientist, Research & Development


  19 May 2014 (Monday)
3:00 – 4:30pm

Seminar Room 2, G/F
The Hong Kong Jockey Club Building for Interdisciplinary Research
5 Sassoon Road, Pokfulam, Hong Kong



Target enrichment provides a method for researchers to focus their sequencing efforts on genomic targets allowing deeper sequencing coverage per sample in a greater number of samples when compared to non-targeted sequencing. This enables studies of disease associated regions, candidate gene sequencing, and whole exome sequencing to identify mutations in target regions. More recently, target enrichment has been combined with bisulfite sequencing for epigenetic studies in methylation research.

This seminar will give an overview of the Roche NimbleGen SeqCap EZ and SeqCap Epi enrichment systems as well as a result of pilotstudy on ten patient-parent trios with intellectual disability (ID) at Departement of Medical Genetics University of Antwerp, which found two mutations located in known ID genes (HRAS and EHMT1) and ability to delineate a new syndrome caused by de novo mutations in the ADNP gene.



Co-organized with Roche Diagnostics (Hong Kong) Limited  
Refreshment to be served
For enquiries, please call 2831-5500 or write to This e-mail address is being protected from spambots. You need JavaScript enabled to view it