!1 14th International Symposium on Variants in the Genome: detection, sequencing & interpretation 5 - 7 June 2017 NH Collection Santiago Santiago de Compostela, Spain Scientific Programme Committee Prof. Johan T. den Dunnen (Leiden, Nederland) CHAIR Prof. Sir John Burn (Newcastle, UK) Prof. Angel Carracedo (Santiago de Compostela, Spain) Dr Reece Hart (San Francisco, CA, USA) Dr Andreas Laner (Munich, Germany) Dr Maria-Jesus Sobrido (Santiago de Compostela, Spain) Organising Committee Maria Torres (CEGEN-PRB2, Universidade de Santiago de Compostela) Rania Horaitis; Event Manager (Meeting Makers www.meeting-makers.com) Previous Meetings 2003 Palm Cove, Australia 1991 Oxford, UK 2005 Santorini, Greece 1993 Lago D’Orta, Italy 2007 Xiamen, China 1995 Visby, Sweden 2009 Paphos, Cyprus 1997 Brno, Czech Republic 2011 Santorini, Greece 1999 Vicoforte, Italy 2013 Lake Louise, Canada 2001 Bled, Slovenia 2015 Leiden, Netherlands !2 !3 !4 !5 !6 !7 !8 !9 !10 !11 !12 !13 Oral Presentation Abstracts Exomiser to include an assessment of SESSION 1 regulatory regions, in an application called the Genomiser. Simulations show an ability to rank the seeded causative variant in first place Phenotype Driven Genomic over an entire genome in over 60% of cases. Diagnostics In this talk, I will review how computational phenotype analysis with the HPO works and Peter N Robinson how we have used it for the Exomiser and Genomiser. Professor of Computational Biology, The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA CNV detection from targeted
[email protected] next-generation panel sequencing www.jax.org Robinson lab: https://robinsongroup.github.io/ data in routine diagnostics Anna Benet-Pagès, Anke M.