Joint Inference of Identity by Descent Along Multiple Chromosomes from Population Samples

There has been much interest in detecting genomic identity by descent (IBD) segments from modern dense genetic marker data and in using them to identify human disease susceptibility loci. Here we present a novel Bayesian framework using Markov chain Monte Carlo (MCMC) realizations to jointly infer IBD states among multiple individuals not known to be related, together with the allelic typing error rate and the IBD process parameters. The data are phased single nucleotide polymorphism (SNP) haplotypes. We model changes in latent IBD state along homologous chromosomes by a continuous time Markov model having the Ewens sampling formula as its stationary distribution. We show by simulation that this model for the IBD process fits quite well with the coalescent predictions. Using simulation data sets of 40 haplotypes over regions of 1 and 10 million base pairs (Mbp), we show that the jointly estimated IBD states are very close to the true values, although the presence of linkage disequilibrium decreases the accuracy. We also present comparisons with the ibd_haplo program, which estimates IBD among sets of four haplotypes. Our new IBD detection method focuses on the scale between genome-wide methods using simple IBD models and complex coalescent-based methods that are limited to short genome segments. At the scale of a few Mbp, our approach offers potentially more power for fine-scale IBD association mapping.