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MBE Advance Access originally published online on August 25, 2008
Molecular Biology and Evolution 2008 25(11):2409-2419; doi:10.1093/molbev/msn185
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Published by Oxford University Press 2008.

Research Articles

Estimation of Nucleotide Diversity, Disequilibrium Coefficients, and Mutation Rates from High-Coverage Genome-Sequencing Projects

Michael Lynch

Department of Biology, Indiana University, Bloomington

E-mail: milynch{at}indiana.edu.

Accepted for publication August 8, 2008.

Recent advances in sequencing strategies have made it feasible to rapidly obtain high-coverage genomic profiles of single individuals, and soon it will be economically feasible to do so with hundreds to thousands of individuals per population. While offering unprecedented power for the acquisition of population-genetic parameters, these new methods also introduce a number of challenges, most notably the need to account for the binomial sampling of parental alleles at individual nucleotide sites and to eliminate bias from various sources of sequence errors. To minimize the effects of both problems, methods are developed for generating nearly unbiased and minimum-sampling-variance estimates of a number of key parameters, including the average nucleotide heterozygosity and its variance among sites, the pattern of decomposition of linkage disequilibrium with physical distance, and the rate and molecular spectrum of spontaneously arising mutations. These methods provide a general platform for the efficient utilization of data from population-genomic surveys, while also providing guidance for the optimal design of such studies.

Key Words: genome scans • heterozygosity • linkage disequilibrium • maximum likelihood estimation • mutation rate • mutation spectrum • nucleotide diversity

Jonathan Pritchard, Associate Editor


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