| Literature DB >> 33335035 |
Wesley C Warren1,2,3, R Alan Harris4, Marina Haukness5, Ian T Fiddes6, Shwetha C Murali7,8, Jason Fernandes9, Philip C Dishuck7, Jessica M Storer10,11, Muthuswamy Raveendran4, LaDeana W Hillier7, David Porubsky7, Yafei Mao7, David Gordon7,8, Mitchell R Vollger7, Alexandra P Lewis7, Katherine M Munson7, Elizabeth DeVogelaere5, Joel Armstrong5, Mark Diekhans5, Jerilyn A Walker10, Chad Tomlinson12, Tina A Graves-Lindsay12, Milinn Kremitzki12, Sofie R Salama9, Peter A Audano7, Merly Escalona9, Nicholas W Maurer9, Francesca Antonacci13, Ludovica Mercuri13, Flavia A M Maggiolini13, Claudia Rita Catacchio13, Jason G Underwood14, David H O'Connor15, Ashley D Sanders16, Jan O Korbel16, Betsy Ferguson17, H Michael Kubisch18, Louis Picker19, Ned H Kalin20, Douglas Rosene21, Jon Levine22,23, David H Abbott23,24, Stanton B Gray25, Mar M Sanchez26,27, Zsofia A Kovacs-Balint26, Joseph W Kemnitz23,28, Sara M Thomasy29,30, Jeffrey A Roberts31, Erin L Kinnally31,32, John P Capitanio31,32, J H Pate Skene33, Michael Platt34, Shelley A Cole35, Richard E Green9, Mario Ventura13, Roger W Wiseman15, Benedict Paten5, Mark A Batzer10, Jeffrey Rogers36, Evan E Eichler37,8.
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.Entities:
Mesh：
Year: 2020 PMID： 33335035 PMCID： PMC7818670 DOI： 10.1126/science.abc6617
Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 47.728