BMC Biology 2015, null:41

Sequencing strategies and characterization of 721 vervet monkey genomes for future genetic analyses of medically relevant traits

Yu Huang, Vasily Ramensky, Susan Service, Anna Jasinska, Yoon Jung, Oi-Wa Choi, Rita Cantor, Nikoleta Juretic, Jessica Wasserscheid, Jay Kaplan, Matthew Jorgensen, Thomas Dyer, Ken Dewar, John Blangero, Richard Wilson, Wesley Warren, George Weinstock, Nelson Freimer.
Background: We report here the first genome-wide high-resolution polymorphism resource for non-human primate (NHP) association and linkage studies, constructed for the Caribbean-origin vervet monkey, or African green monkey (Chlorocebus aethiops sabaeus), one of the most widely used NHPs in biomedical research. We generated this resource by whole genome sequencing (WGS) of monkeys from the Vervet Research Colony (VRC), an NIH-supported research resource for which extensive phenotypic data are available. Results: We identified genome wide single nucleotide polymorphisms (SNPs) by WGS of 721 members of an extended pedigree from the VRC. From high-depth WGS data we identified more than 4 million polymorphic unequivocal segregating sites; by pruning these SNPs based on heterozygosity, quality control filters, and the degree of linkage disequilibrium (LD) between SNPs we constructed genome wide panels suitable for genetic association (~500,000 SNPs) and linkage analysis (~150,000 SNPs). To further enhance the utility of these resources for linkage analysis, we used a further pruned subset of the linkage panel to generate multipoint identity by descent (MIBD) matrices. Conclusions: The genetic and phenotypic resources now available for the VRC and other Caribbean-origin vervets enable their use for genetic investigation of traits relevant to human diseases.