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| Item Type: | Article |
|---|---|
| Title: | Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility. |
| Creators: |
Warren, W.C.  ORCID: https://orcid.org/0000-0003-2255-2730, Harris, R.A. ORCID: https://orcid.org/0000-0002-7333-4752, Haukness, M. ORCID: https://orcid.org/0000-0001-9991-8089, Fiddes, I.T. ORCID: https://orcid.org/0000-0002-1580-7443, Murali, S.C., Fernandes, J. ORCID: https://orcid.org/0000-0002-8625-1796, Dishuck, P.C. ORCID: https://orcid.org/0000-0003-2223-9787, Storer, J.M ORCID: https://orcid.org/0000-0002-9619-5265, Raveendran, M. ORCID: https://orcid.org/0000-0001-6185-4059, Hillier, L.W., Porubsky, D., Mao, Y. ORCID: https://orcid.org/0000-0002-9648-4278, Gordon, D. ORCID: https://orcid.org/0000-0001-6552-4022, Vollger, M.R. ORCID: https://orcid.org/0000-0002-8651-1615, Lewis, A.P. ORCID: https://orcid.org/0000-0002-6195-4786, Munson, K.M. ORCID: https://orcid.org/0000-0001-8413-6498, DeVogelaere, E., Armstrong, J. ORCID: https://orcid.org/0000-0003-2077-4671, Diekhans, M. ORCID: https://orcid.org/0000-0002-0430-0989, Walker, J.A., Tomlinson, C. ORCID: https://orcid.org/0000-0001-9905-6159, Graves-Lindsay, T.A., Kremitzki, M., Salama, S.R. ORCID: https://orcid.org/0000-0001-6999-7193, Audano, P.A. ORCID: https://orcid.org/0000-0002-5187-0415, Escalona, M. ORCID: https://orcid.org/0000-0003-0213-4777, Maurer, N.W. ORCID: https://orcid.org/0000-0003-0007-7887, Antonacci, F. ORCID: https://orcid.org/0000-0002-5833-6186, Mercuri, L. ORCID: https://orcid.org/0000-0002-3688-4501, Maggiolini, F.A.M. ORCID: https://orcid.org/0000-0001-6832-9388, Catacchio, C.R. ORCID: https://orcid.org/0000-0002-2166-723X, Underwood, J.G., O'Connor, D.H. ORCID: https://orcid.org/0000-0003-2139-470X, Sanders, A.D. ORCID: https://orcid.org/0000-0003-3945-0677, Korbel, J.O., Ferguson, B. ORCID: https://orcid.org/0000-0002-6992-3538, Kubisch, H.M. ORCID: https://orcid.org/0000-0001-6281-8420, Picker, L. ORCID: https://orcid.org/0000-0003-0546-398X, Kalin, N.H., Rosene, D., Levine, J. ORCID: https://orcid.org/0000-0003-4177-6406, Abbott, D.H., Gray, S.B. ORCID: https://orcid.org/0000-0002-8816-0898, Sanchez, M.M. ORCID: https://orcid.org/0000-0001-7701-2892, Kovacs-Balint, Z.A., Kemnitz, J.W. ORCID: https://orcid.org/0000-0001-6511-404X, Thomasy, S.M. ORCID: https://orcid.org/0000-0001-5617-9677, Roberts, J.A. ORCID: https://orcid.org/0000-0002-0159-6112, Kinnally, E.L., Capitanio, J.P. ORCID: https://orcid.org/0000-0002-3680-1323, Skene, J.H.Pate ORCID: https://orcid.org/0000-0003-3205-0697, Platt, M. ORCID: https://orcid.org/0000-0003-3912-8821, Cole, S.A. ORCID: https://orcid.org/0000-0002-2651-0127, Green, R.E. ORCID: https://orcid.org/0000-0003-0516-5827, Ventura, M. ORCID: https://orcid.org/0000-0001-7762-8777, Wiseman, R.W. ORCID: https://orcid.org/0000-0002-7682-7085, Paten, B. ORCID: https://orcid.org/0000-0001-8863-3539, Batzer, M.A. ORCID: https://orcid.org/0000-0001-5699-863X, Rogers, J. ORCID: https://orcid.org/0000-0002-7374-6490 and Eichler, E.E.
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| 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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