About

Overview


The Critical Assessment of Genome Interpretation (CAGI, \'kā-jē\) is a community experiment to assess the current methods of predicting phenotypic impacts of genomic variation and to inform future research directions. The experiment will consist of predictions of molecular, cellular, or organismal phenotypes from provided genomic data and assessment against unpublished observations.

The Experimental Goals are:
1. To evaluate the capability of current state-of-the art methods to make useful predictions of molecular, cellular, or organism phenotypes from genomic data.
2. To identify bottlenecks in genome interpretation that suggest especially critical areas of future research.
3. To engage and connect researchers from the diverse disciplines whose expertise is essential to methods for genome interpretation.

Motivation

The acquisition of large numbers of personal genomes has long been the aspiration of genomics researchers, and sequencing technologies promise to make this affordable within the next several years. Already, large-scale genotyping arrays are widely used in research and retail DNA tests of genetic markers have captured the public’s imagination. Unfortunately, personal genomes presently have limited research, or medical value due to a variety of scientific, technical, legal, sociological, and ethical challenges. Yet, whole genomes are also providing tremendous breakthroughs in basic science, such as revealing the genetic basis of Mendelian diseases that had proven refractory to traditional genetics for decades, and helping to unravel the mechanisms by which cancer emerges and evolves.

CAGI follows in the spirit of the long-running Critical Assessment of Structure Prediction (CASP). Organizers have collected unpublished genomic data with associated phenotype characteristics. During the prediction season, participating groups will submit predictions in these areas based on data provided. The prediction accuracy will be evaluated by assessors and results will be revealed at an initial workshop to be held on Dec 10 2010.