Friday October the 1st, the first TECHGENE Knowledge Network Meeting was organized with > 40 participants.

Venue: Vergadercentrum Vredenburg, Vredenburg 19, 3511BB Utrecht, The Netherlands.

• Presentation by Multiplicon: MASTR assays as front end amplification tools for NGS

• Presentation by Agilent on whole exome sequencing

• Kornelia Neveling (Nijmegen): Targeted gene capture for hereditary blindness in diagnostics

• Andre Blavier: The NGS-extended version of Alamut

• Genevieve Michils (Leuven): The use of SeqNext in the data analysis of amplicon-based NGS of BRCA1/2

• Lisenka Peart-Vissers (Nijmegen): Whole exome sequencing in mental retardation

12.00-13.00 Lunch
13.00-15.30 Group discussions on gene capture, data analysis/interpretation, ethical issues (examples of issues to be discussed indicated below)

Issues discussed:

• Is there still a place for amplicon sequencing and/or targeted gene capture in diagnostics, or will we will be doing whole exome sequencing (and filtering of data interpretation) within one year?

• Is sequencing of the whole exome followed by data analysis/interpretation ethically sound?

• Needed infrastructure (focus on data analysis/interpretation, including available software such as CLCbio, SeqNext (JSI), Alamut)

• Do we have to store all raw data?

• How to report a NGS diagnostic analysis? Just limited to pathogenic mutations? Storage in database of all detected UVs? Or all variants? Collaborative database?

• Quality issues: how to validate? Required minimal coverage?

• Other issues (please let us know issues that you wish to discuss)