Curating the Clinical Genome

This event will be of interest to a wide group of medical genomics researchers, clinicians and clinical scientists practicing genomic medicine, companies developing solutions for clinical genomics and data scientists interested in genomic data sharing.

The sharing of genetic data from clinical diagnostic testing and the generation of consensus-curated knowledge is vital for delivering on the promise of genomic medicine. The growing recognition of the power of global data sharing has led to the establishment of major initiatives, such as ClinGen and DECIPHER consortia, which have spearheaded this conference series. This year’s meeting focuses on bringing together these and other national/regional initiatives to develop common standards (guidelines and resources), share best practices, integrate the recent research findings and help drive patient benefits.

We aim to organise this meeting as a hybrid conference – with on-site or virtual attendance. If you would like to be part of these discussions – consider submitting an abstract by 16 May 2023 and registering by 13 June (in-person) or 3 July (virtual) 2023.

Discussions will focus on a variety of exciting topics, including:

• Genetic architecture and locus heterogeneity
• Genetic pleiotropy and allelic heterogeneity
• Non-coding variation and polygenic risk scores
• Computational approaches
• Functional assays
• Variant classification recommendations
• Iterative reporting (panel discussion)

Keynote speaker:

Ambroise Wonkam - Johns Hopkins University, USA

Confirmed speakers
Haico van Attikum – Leiden University, the Netherlands

Leslie G. Biesecker – NIH-National Human Genome Research Institute, USA
Nadia Carstens – University of the Witwatersrand, South Africa
Sandra Cooper – University of Sydney, Australia
Segun Fatumo – LSHTM & MRC/UVRI Uganda Research Unit, UK/Uganda
Elizabeth McNally – Northwestern University, USA
Erin R. Riggs – Geisinger Health System, USA
Carlo Rivolta – University of Basel, Switzerland/University of Leicester, UK
Ian Simpson – University of Edinburgh, UK
Zornitza Stark – Victorian Clinical Genetics Services, Australia
Andrea Superti-Furga – Lausanne University Hospital, Switzerland
Lisenka Vissers – Radboud University, the Netherlands
Nicky Whiffin – University of Oxford, UK
Andrew Wilkie – University of Oxford, UK

For registration details: https://coursesandconferences.wellcomeconnectingscience.org/event/curating-the-clinical-genome-20230710/