Article
Lessons from the CAGI-4 Hopkins clinical panel challenge.
Human mutation - 1 Sept 2017
Chandonia John-Marc, Adhikari Aashish, Carraro Marco, Chhibber Aparna, Cutting Garry R, Fu Yao, Gasparini Alessandra, Jones David T, Kramer Andreas, Kundu Kunal, Lam Hugo Y K, Leonardi Emanuela, Moult John, Pal Lipika R, Searls David B, Shah Sohela, Sunyaev Shamil, Tosatto Silvio C E, Yin Yizhou, Buckley Bethany A
Abstract excerpt
The CAGI-4 Hopkins clinical panel challenge was an attempt to assess state-of-the-art methods for clinical phenotype prediction from DNA sequence. Participants were provided with exonic sequences of 83 genes for 106 patients from the Johns Hopkins DNA Diagnostic Laboratory. Five groups participated in the challenge, predicting both the probability that each patient had each of the 14 possible classes of disease,...
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