A near telomere-to-telomere phased reference assembly for the male mountain gorilla
The endangered mountain gorilla, Gorilla beringei beringei, faces numerous threats to its survival, highlighting the urgent need for genomic resources to aid conservation efforts. Here, we present a near telomere-to-telomere, haplotype-phased reference genome assembly for a male mountain gorilla generated using PacBio HiFi (26.77× ave. coverage) and Oxford Nanopore Technologies (52.87× ave. coverage) data. The resulting non-scaffolded assembly exhibits exceptional contiguity, with contig N50 of ~95 Mbp for the combined pseudohaplotype (3,540,458,497 bp), 56.5 Mbp (3.1 Gbp) and 51.0 Mbp (3.2 Gbp) for each haplotype, an average QV of 65.15 (error rate = 3.1 × 10<sup>-7</sup>), and a BUSCO score of 98.4%. These represent substantial improvements over most other available primate genomes. This first high-quality reference genome of the mountain gorilla provides an invaluable resource for future studies on gorilla evolution, adaptation, and conservation, ultimately contributing to the long-term survival of this iconic species.
Authors
- Evan E. Eichler (ORCID: https://orcid.org/0000-0002-8246-4014)
- Khaled M. Hazzouri (ORCID: https://orcid.org/0000-0002-9346-3906)
- Wim Meert (ORCID: https://orcid.org/0000-0001-8019-4893)
- Richard Muvunyi (ORCID: https://orcid.org/0009-0006-7594-8754)
- Gaspard Nzayisenga
- Kourosh Salehi‐Ashtiani (ORCID: https://orcid.org/0000-0002-6521-5243)
- Wouter Coppieters (ORCID: https://orcid.org/0000-0001-8109-7825)
- David Roy Nelson (ORCID: https://orcid.org/0000-0001-8868-5734)
- Jean‐Claude Twizere (ORCID: https://orcid.org/0000-0002-8683-705X)
- Latifa Karim
- DongAhn Yoo (ORCID: https://orcid.org/0000-0003-0033-3721)
- Katherine M. Munson (ORCID: https://orcid.org/0000-0001-8413-6498)
- Jean-Claude Tumushime
- Nziza Julius (ORCID: https://orcid.org/0000-0002-9142-0582)
Institutions
- International Gorilla Conservation Programme (RW)
- New York University Abu Dhabi (AE)
- Howard Hughes Medical Institute (US)
- University of Liège (BE)
- Khalifa University of Science and Technology (AE)
- University of Washington (US)
- Rwanda Development Board (RW)
- KU Leuven (BE)
Publication Details
- Journal
- Scientific Data
- Published
- 2025-05-22
- DOI
- https://doi.org/10.1038/s41597-025-05114-5
- Primary Topic
- Telomeres, Telomerase, and Senescence
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Oxford Nanopore Technologies
- New York University Abu Dhabi
- Fonds De La Recherche Scientifique - FNRS
- KU Leuven
- Académie de recherche et d'enseignement supérieur
- National Institutes of Health
- National Human Genome Research Institute