Accurate assembly of the olive baboon (Papio anubis) genome using long-read and Hi-C data

Author:

Batra Sanjit Singh1ORCID,Levy-Sakin Michal2,Robinson Jacqueline3ORCID,Guillory Joseph4,Durinck Steffen45,Vilgalys Tauras P6ORCID,Kwok Pui-Yan23ORCID,Cox Laura A78ORCID,Seshagiri Somasekar4ORCID,Song Yun S1910ORCID,Wall Jeffrey D3ORCID

Affiliation:

1. Computer Science Division, University of California Berkeley, 2626 Hearst Avenue, Berkeley, CA 94720, USA

2. Cardiovascular Research Institute, University of California San Francisco, 555 Mission Bay Boulevard South, San Francisco, CA 94158, USA

3. Institute for Human Genetics, University of California San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143, USA

4. Department of Molecular Biology, Genentech, Inc., 1 DNA Way, South San Francisco, CA 94080, USA

5. Bioinformatics and Computational Biology Department, Genentech, Inc., 1 DNA Way, South San Francisco, CA 94080, USA

6. Department of Evolutionary Anthropology, Duke University, 130 Science Drive, Durham, NC 27705, USA

7. Center for Precision Medicine, Department of Internal Medicine, Section of Molecular Medicine, Wake Forest School of Medicine, 475 Vine Drive, Winston-Salem, NC 27101, USA

8. Southwest National Primate Research Center, Texas Biomedical Research Institute, 8715 W. Military Drive, San Antonio, TX 78227, USA

9. Department of Statistics, University of California Berkeley, 367 Evans Hall, Berkeley, CA 94720, USA

10. Chan Zuckerberg Biohub, Mission Bay, San Francisco, CA 94158, USA

Abstract

Abstract Background Baboons are a widely used nonhuman primate model for biomedical, evolutionary, and basic genetics research. Despite this importance, the genomic resources for baboons are limited. In particular, the current baboon reference genome Panu_3.0 is a highly fragmented, reference-guided (i.e., not fully de novo) assembly, and its poor quality inhibits our ability to conduct downstream genomic analyses. Findings Here we present a de novo genome assembly of the olive baboon (Papio anubis) that uses data from several recently developed single-molecule technologies. Our assembly, Panubis1.0, has an N50 contig size of ∼1.46 Mb (as opposed to 139 kb for Panu_3.0) and has single scaffolds that span each of the 20 autosomes and the X chromosome. Conclusions We highlight multiple lines of evidence (including Bionano Genomics data, pedigree linkage information, and linkage disequilibrium data) suggesting that there are several large assembly errors in Panu_3.0, which have been corrected in Panubis1.0.

Funder

National Institutes of Health

Publisher

Oxford University Press (OUP)

Subject

Computer Science Applications,Health Informatics

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