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

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

2021-01-02T06:51:01Z

2021-01-02T06:51:01Z

2020-12

2021-01-02T06:50:59Z

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.

370/6523/eabc6617

0036-8075

1095-9203

https://hdl.handle.net/10161/21963

eng

American Association for the Advancement of Science (AAAS)

Science (New York, N.Y.)

10.1126/science.abc6617

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

Journal article

Skene, JH Pate|0000-0003-3205-0697

6523

School of Medicine

Neurobiology

Duke Science & Society

Duke Institute for Brain Sciences

Duke

Basic Science Departments

Initiatives

Institutes and Provost's Academic Units

University Institutes and Centers

Published

370