DNAdigest Hack Day

On August 29th DNAdigest organized a pre-conference workshop for the ICSB conference. Our workshop was titled “DNAdigest: translational genomics – from bioinformatics to medical informatics”.

Our international audience were treated with three invited talks and a presentation from DNAdigest. The three invited talks covered the whole spectrum of translational genomics from mining medical records for disease associations, to technology and methods, to analysis of individual genes in individual patients to identify disease-causing mutations.

Ben Curran (@3rdKingsland) attended our workshop and wrote no less than two summaries on his blog:

The schedule was:

•9:00am Introduction
Søren Brunak, Professor, Center for Biological Sequence Analysis:
Data mining medical records for new insights for diagnostics
Jennifer Becq, Bioinformatics Scientist, illumina Cambridge:
From sequencing a tumour sample to finding actionable variants
Mette Nyegaard, Associate Professor Human Genetics, Aarhus University:
A novel deafness locus and gene mutation on chromosome 6q15-q21 identified using linkage analysis and next generation sequencing
Fiona Nielsen, DNAdigest.org:
Protecting data and sharing knowledge – Enabling secure data access for advancement of genomics research
•12:30pm Q&A and thanks

We would like to thank all the participants, speakers and our sponsor Illumina for a great workshop and we are looking forward to welcome you again at future events by DNAdigest.

This event was sponsored by Illumina