Centre for Health and Bioinformatics

Centre for Health and Bioinformatics

CHaBi seminar - Joris Veltman

Large-scale exome and genome sequencing in genetic disease: Impact for research and diagnostics

Date/Time: 6th April 2017 16.00

Venue: Seminar Room – West Wing at ICfL

Rapid developments in genomics technologies now allow us to sequence all genes (the exome) or even the entire genome of thousands of patients for research and diagnostics.  This is completely changing the way genetics studies are done; taking away the major bottleneck of genomic variation detection.  

In this presentation I will explain our research on and diagnostics of genetic disorders and focus on the major remaining bottleneck; interpretation of the enormous amount of variation present in individual genomes in the context of a clinically heterogeneous phenotype.  Solving this will require a concerted clinical, biological and bioinformatics approach, resulting amongst others in international agreement on phenotype ontologies, sharing of clinical and genomic data, optimization of variant interpretation tools and the validation of these using relevant biological models.  I will illustrate all of this using severe intellectual disability as a model, for which we are making rapid progress and now have the opportunity to provide medically relevant information to the majority of patients and families involved.

Followed by:
Post lecture networking at 17.00

To attend the lecture, please book a place at:
http://forms.ncl.ac.uk/view.php?id=12258

Joris Veltman