Reliable and fast estimation of recombination rates by convergence diagnosis and parallel markov chain monte carlo

Abstract

Genetic recombination is an essential event during the process of meiosis resulting in an exchange of segments between paired chromosomes. Estimating recombination rate is crucial for understanding the process of recombination. Experimental methods are normally difficult and limited to small scale estimations. Thus statistical methods using population genetics data are important for large-scale analysis. LDhat is an extensively used statistical method using rjMCMC algorithm to predict recombination rates. Due to the complexity of rjMCMC scheme, LDhat may take a long time for large SNP data sets. In addition, rjMCMC parameters should be manually defined in the original program which directly impact results. To address these issues, we designed an improved algorithm based on LDhat implementing MCMC convergence diagnostic algorithms to automatically predict values of parameters and monitor the mixing process. Then parallel computation methods were employed to further accelerate the new program. The new algorithms have been tested on ten samples from HapMap phase 2 data set. The results were compared with previous code and showed nearly identical output. However, our new methods achieved significant acceleration proving that they are more efficient and reliable for the estimation of recombination rates. The stand-alone package is freely available for download http://www.ntu.edu.sg/home/zhengjie/software/CPLDhat. © 2004-2012 IEEE.