Clinical Interpretation of Variants from Next - Generation Sequencing
Friday 20th May 2016
Event immediately prior to the ESHG meeting
Next Generation Sequencing (NGS) technologies already have demonstrated clinical utility in many areas of medicine and promise to dramatically expand new and existing aspects of genetic research in disease diagnosis, risk and treatment. This meeting will explore multiple aspects of the clinical use of NGS, including whole exome and genome studies in inherited disorders, genomic analysis of somatic tissues, and issues of interpretation and standards of genetic variation for clinical use.
The 100,000 genomes project
Head of Genome Analysis, Genomics England, & Head of Department of Medical &
Molecular Genetics Director of Bioinformatics King's Health Partners/King's College London, Faculty of Life Sciences & Medicine, King's College London
Are we done with variant calling?
Director, CNAG, Barcelona, Spain
Variants annotation and filtration in NGS context (exact title TBC)
NGS Team Manager at UMR_S910 - Aix-Marseille Université, France
Ethical issues of NGS and diagnosis of human genetics diseases
Centre for Research Ethics & Bioethics (CRB), Uppsala University, Sweden
Ethical and legal issues for NGS analysis (exact title TBC)
*TBC = To be confirmed
More speakers to be announced soon once confirmed
ABSTRACT SUBMISSION HAS CLOSED.
Closing Date Extended to 8th March 2016 (no further extensions to be made!)
We invite abstracts to be submitted to the meeting within the theme of clinical interpretation of variants from next generation sequencing for consideration as both oral and poster presentations. We also welcome other abstracts with general "variation" themes. Abstracts within the theme will be given priority for oral presentations. Please see the Abstract tab above for instructions on formatting and how to submit.
Scientific Programme Committee
Hotel Vincci Maritimo
Calle Llull, 340, 08019 Barcelona, Spain
300 metres from Selva de Mar metro station. 2 minute walk to CCIB where ESHG will be held.
Friday 20th May 2016
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