Browsing by Author "Fiddes, Ian T"

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    Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility.
    (Science (New York, N.Y.), 2020-12) Warren, Wesley C; Harris, R Alan; Haukness, Marina; Fiddes, Ian T; Murali, Shwetha C; Fernandes, Jason; Fernandes, Jason; Dishuck, Philip C; Storer, Jessica M; Raveendran, Muthuswamy; Hillier, LaDeana W; Porubsky, David; Mao, Yafei; Gordon, David; Vollger, Mitchell R; Lewis, Alexandra P; Munson, Katherine M; DeVogelaere, Elizabeth; Armstrong, Joel; Diekhans, Mark; Walker, Jerilyn A; Tomlinson, Chad; Graves-Lindsay, Tina A; Kremitzki, Milinn; Salama, Sofie R; Audano, Peter A; Escalona, Merly; Maurer, Nicholas W; Antonacci, Francesca; Mercuri, Ludovica; Maggiolini, Flavia AM; Catacchio, Claudia Rita; Underwood, Jason G; O'Connor, David H; Sanders, Ashley D; Korbel, Jan O; Ferguson, Betsy; Kubisch, H Michael; Picker, Louis; Kalin, Ned H; Rosene, Douglas; Levine, Jon; Abbott, David H; Gray, Stanton B; Sanchez, Mar M; Kovacs-Balint, Zsofia A; Kemnitz, Joseph W; Thomasy, Sara M; Roberts, Jeffrey A; Kinnally, Erin L; Capitanio, John P; Skene, JH Pate; Platt, Michael; Cole, Shelley A; Green, Richard E; Ventura, Mario; Wiseman, Roger W; Paten, Benedict; Batzer, Mark A; Rogers, Jeffrey; Eichler, Evan E
    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.