Curating the Clinical Genome (Wellcome Connecting Science)

We are pleased to announce the 7th Curating the Clinical Genome conference, which aims to bring together the international clinical genomics and biodata communities to discuss best practices for the clinical use of genomic data, including variant interpretation, clinical utility, and the consensus generation of curated knowledge.

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. The focus of this year’s meeting is to bring 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.

• 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)

After the conference, on the afternoon of 12 July, we will discuss the potential use of mutational scanning data in variant classification in clinical practice at the “Scanning the Clinical Genome” workshop. Registration for this face-to-face workshop will be taken separately from the conference and the number of participants will be limited.

• Leslie G. Biesecker – NIH-National Human Genome Research Institute, USA
• Julia Foreman – EMBL-EBI, UK
• Aimé Lumaka – University of Kinshasa, Democratic Republic of Congo
• Meredith Weaver – American College of Medical Genetics & Genomics, USA

For the full list of speakers, registration and further information:
https://coursesandconferences.wellcomeconnectingscience.org/event/curating-the-clinical-genome-20230710/