Article
Crohn disease risk prediction-Best practices and pitfalls with exome data.
Human mutation - 1 Sept 2017
Giollo Manuel, Jones David T, Carraro Marco, Leonardi Emanuela, Ferrari Carlo, Tosatto Silvio C E
Abstract excerpt
The Critical Assessment of Genome Interpretation (CAGI) experiment is the first attempt to evaluate the state-of-the-art in genetic data interpretation. Among the proposed challenges, Crohn disease (CD) risk prediction has become the most classic problem spanning three editions. The scientific question is very hard: can anybody assess the risk to develop CD given the exome data alone? This is one of the ultimate...
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