Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility.

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Item Type:	Article
Title:	Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility.
Creators Name:	Warren, W.C., Harris, R.A., Haukness, M., Fiddes, I.T., Murali, S.C., Fernandes, J., Dishuck, P.C., Storer, J.M, Raveendran, M., Hillier, L.W., Porubsky, D., Mao, Y., Gordon, D., Vollger, M.R., Lewis, A.P., Munson, K.M., DeVogelaere, E., Armstrong, J., Diekhans, M., Walker, J.A., Tomlinson, C., Graves-Lindsay, T.A., Kremitzki, M., Salama, S.R., Audano, P.A., Escalona, M., Maurer, N.W., Antonacci, F., Mercuri, L., Maggiolini, F.A.M., Catacchio, C.R., Underwood, J.G., O'Connor, D.H., Sanders, A.D., Korbel, J.O., Ferguson, B., Kubisch, H.M., Picker, L., Kalin, N.H., Rosene, D., Levine, J., Abbott, D.H., Gray, S.B., Sanchez, M.M., Kovacs-Balint, Z.A., Kemnitz, J.W., Thomasy, S.M., Roberts, J.A., Kinnally, E.L., Capitanio, J.P., Skene, J.H.Pate, Platt, M., Cole, S.A., Green, R.E., Ventura, M., Wiseman, R.W., Paten, B., Batzer, M.A., Rogers, J. and Eichler, E.E.
Abstract:	The rhesus macaque (Macaca mulatta) is the most widely studied nonhuman primate (NHP) in biomedical research. We present an updated reference genome assembly (Mmul_10, contig N50 = 46 Mbp) that increases the sequence contiguity 120-fold and annotate it using 6.5 million full-length transcripts, thus improving our understanding of gene content, isoform diversity, and repeat organization. With the improved assembly of segmental duplications, we discovered new lineage-specific genes and expanded gene families that are potentially informative in studies of evolution and disease susceptibility. Whole-genome sequencing (WGS) data from 853 rhesus macaques identified 85.7 million single-nucleotide variants (SNVs) and 10.5 million indel variants, including potentially damaging variants in genes associated with human autism and developmental delay, providing a framework for developing noninvasive NHP models of human disease.
Keywords:	Genetic Predisposition to Disease, Genetic Variation, Genome, Molecular Sequence Annotation, Single Nucleotide Polymorphism, Whole Genome Sequencing, Animals, Macaca mulatta
Source:	Science
ISSN:	0036-8075
Publisher:	American Association for the Advancement of Science
Volume:	370
Number:	6523
Page Range:	eabc6617
Date:	18 December 2020
Official Publication:	https://doi.org/10.1126/science.abc6617
External Fulltext:	View full text on PubMed Central
PubMed:	View item in PubMed

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