Using advanced sequencing technology, researchers present a new, improved and far more complete reference genome for the rhesus macaque - one of the most important animal models in biomedical research. The expanded macaque reference genome may help in the discovery and development of new, noninvasive models of human disease and in evaluating the effect of genetic variation on experimental treatments prior to human trials. The rhesus macaque is the most widely studied nonhuman primate in biomedical research and its genome has played an essential role in expanding our understanding of AIDS, the development of Ebola vaccines, and in discovering novel genetic therapies for neurodevelopmental disorders like autism. However, since the presentation of the first whole-genome analysis of the rhesus macaque genome in 2007, genomic technology has improved significantly. Using new techniques and recent advances in sequencing technologies, Wesley Warren and colleagues assembled an updated reference genome for the macaque. The authors report that the new and improved macaque assembly expands the sequence continuity by 120-fold over the previous Indian rhesus macaque assembly and closes more than 99.7% of the gaps it contained. Warren et al. analyzed whole-genome sequencing data from 853 captive rhesus macaques and compared the results to the new reference genome to identify the genetic variability. The findings revealed thousands of naturally occurring gene variants and mutations, including those associated with human autism and developmental delay.
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Journal
Science