A near telomere-to-telomere phased reference assembly for the male mountain gorilla

David Nelson; Richard Muvunyi; Khaled M. Hazzouri; Jean Claude Tumushime; Gaspard Nzayisenga; Nziza Julius; Wim Meert; Latifa Karim; Wouter Coppieters; Katherine M. Munson; Dong Ahn Yoo; Evan E. Eichler; Kourosh Salehi-Ashtiani; Jean Claude Twizere

doi:10.1038/s41597-025-05114-5

A near telomere-to-telomere phased reference assembly for the male mountain gorilla

David Nelson, Richard Muvunyi, Khaled M. Hazzouri, Jean Claude Tumushime, Gaspard Nzayisenga, Nziza Julius, Wim Meert, Latifa Karim, Wouter Coppieters, Katherine M. Munson, Dong Ahn Yoo, Evan E. Eichler, Kourosh Salehi-Ashtiani, Jean Claude Twizere

Research output: Contribution to journal › Article › peer-review

Abstract

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 × 10⁻⁷), 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.

Original language	English (US)
Article number	842
Journal	Scientific Data
Volume	12
Issue number	1
DOIs	https://doi.org/10.1038/s41597-025-05114-5
State	Published - Dec 2025

ASJC Scopus subject areas

Statistics and Probability
Information Systems
Education
Computer Science Applications
Statistics, Probability and Uncertainty
Library and Information Sciences

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10.1038/s41597-025-05114-5

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Nelson, D., Muvunyi, R., Hazzouri, K. M., Tumushime, J. C., Nzayisenga, G., Julius, N., Meert, W., Karim, L., Coppieters, W., Munson, K. M., Yoo, D. A., Eichler, E. E., Salehi-Ashtiani, K., & Twizere, J. C. (2025). A near telomere-to-telomere phased reference assembly for the male mountain gorilla. Scientific Data, 12(1), Article 842. https://doi.org/10.1038/s41597-025-05114-5

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abstract = "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 × 10−7), 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.",

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A near telomere-to-telomere phased reference assembly for the male mountain gorilla

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