The overarching goal of the Critical Assessment of Genome Interpretation (CAGI) is to establish the state of the art in the field of interpreting genomic variation though periodic editions of the CAGI experiment and extensive dissemination of their outcomes. For predictors, establishing state of the art involves recognizing best prediction strategies, highlighting innovation and identifying bottlenecks that prevent the field from advancing. For the user community, this involves providing trustworthy information about the most appropriate methods for a particular research or clinical application, and the best way to use the methods.

Why genome interpretation? Genomic variation is responsible for numerous rare diseases, for propensity for many common traits and diseases including cancer, for drug response, and is a key characteristic of cancer evolution. Genomic data therefore hold the promise of revolutionizing our understanding and treatment of human disease.

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