Details

Autor(en) / Beteiligte

• Warren, Wesley C
• Harris, R Alan
• Haukness, Marina
• Fiddes, Ian T
• Murali, Shwetha C
• 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 A M
• 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, J H Pate
• Platt, Michael
• Cole, Shelley A
• Green, Richard E
• Ventura, Mario
• Wiseman, Roger W
• Paten, Benedict
• Batzer, Mark A
• Rogers, Jeffrey
• Eichler, Evan E

Titel

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

Ist Teil von

• Science (American Association for the Advancement of Science), 2020-12, Vol.370 (6523)

Ort / Verlag

United States: The American Association for the Advancement of Science

Erscheinungsjahr

2020

Quelle

American Association for the Advancement of Science

Beschreibungen/Notizen

• The rhesus macaque ( ) 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.