This is latest in the series of meetings on this topic, which have focused on the efforts of the ClinGen and/or DECIPHER consortia. The programme will be of interest to a wide group of medical genomics researchers, clinicians practising genomic medicine, companies developing solutions for clinical genomics and researchers interested in genomic data sharing.
This year's meeting will focus on harnessing patient and population data for knowledge curation, the use of ‘matchmaking’ to discover new disease genes, and defining evidence for gene-disease relationships. There will be a special session focusing on the how variants are evaluated for pathogenicity, including a discussion of the guidelines and resources available to make this more transparent. We will also explore new frontiers that are opening up in clinical genomics, from a technical and ethical perspective.
. Integrating genomics into the practice of medicine
. Phenotype analysis: harnessing patient and population data
. Curating gene-disease relationships
. Supporting variant assessment: resources and guidelines
. Patient reported data
. Matchmaking: the user experience
. New frontiers in clinical genomics
A limited number of registration bursaries are available for PhD students to attend this conference (up to 50% of the registration fee) from Wellcome Genome Campus Scientific Conferences.
Bursary Deadline: 13 April 2016
Abstract Deadline: 27 April 2016
Registration Deadline: 25 May 2016
In association with Decipher and ClinGen.
Students from: GBP 266
Academic from: GBP 366
Commercial from: GBP 466
Speakers: Euan Ashley (Stanford University, USA), Phil Beales (University College London, UK), Florent Colin (IGBMC, France), Sarah Elsea (Baylor College of Medicine, USA), Dominic McMullan (Birmingham Women's Hospital, UK), Gil McVean (University of Oxford, UK), Nicola Perrin (Wellcome Trust, UK), Kyle Retterer (GeneDx, USA), Mark Robson (Memorial Sloan Kettering Cancer Center, USA), Ernest Turro (University of Cambridge, UK), Christi van Asperen (Leiden University Medical Center, The Netherlands), Caroline Wright (Wellcome Trust Sanger Institute, UK), Helen Firth (University of Cambridge, UK), Matt Hurles (Wellcome Trust Sanger Institute, UK), Christa Martin (Geisinger Health System, USA), Sharon Plon (Baylor School of Medicine, USA), Heidi Rehm (Harvard Medical School, USA), Joris Vermeesch (K.U.Leuven, Belgium)
Sign in to add slides, notes or videos to this session