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MODE for detecting and estimating genetic causal variants

By V. S. Sundar, Chun-Chieh Fan, Dominic Holland, Anders M. Dale

Posted 27 Jun 2018
bioRxiv DOI: 10.1101/357228

Determining the genetic causal variants and estimating their effect sizes are considered to be correlated but independent problems. Fine-mapping studies often rely on the ability to integrate useful functional annotation information into genome wide association univariate/multivariate analysis. In the present study, by modeling the probability of a SNP being causal and its effect size as a set of correlated Gaussian/non-Gaussian random variables, we design an optimization routine for simultaneous fine-mapping and effect size estimation. The algorithm is released as an open source C package MODE.

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