CAGI: Critical Assessment of Genome Interpretation, a community experiment to evaluate phenotype prediction

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• Professor John Moult: Institute for Bioscience and Biotechnololgy Research, University of Maryland
• Thursday 11 September 2014, 15:00-16:00
• Sackler Lecture Theatre, Wellcome Trust/MRC Building, Addenbrooke's .

If you have a question about this talk, please contact Sue Tennant.

Host: Randy Read

CAGI is a community experiment to objectively assess computational methods for predicting the phenotypic impacts of genomic variation, particularly in areas relevant to human disease. The aim of the experiment is to define the state-of-the-art of genome interpretation, both highlighting innovation and identifying those bottlenecks that prevent the field from advancing. In these experiments, participants are invited to make bona fide blinded predictions of disease-related phenotypes on the basis of genomic data.

The variation data used in challenges mirror that encountered in current and imminent clinical practice, with a focus on genomes, exomes, nonsynonymous SNPs, splice-affecting SNPs, and copy number variation, as well as additional data such as transcriptomes. Challenges probe the state of the art in identifying causative variants in rare Mendelian diseases and estimating the risk of individuals having complex diseases, such as Crohn’s. Cancer related variants form the basis of a substantial fraction of the challenges, relevant to the rapidly growing use of sequencing data for analysis and optimal treatment.

This talk is part of the Cell Biology in Medicine Seminar Series series.

This talk is included in these lists:

• Cambridge Infectious Diseases
• Cell Biology in Medicine Seminar Series
• PMRFPS's
• Pathology Seminars
• Sackler Lecture Theatre, Wellcome Trust/MRC Building, Addenbrooke's

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