Language
English
Publication Date
5-22-2025
Journal
Scientific Data
DOI
10.1038/s41597-025-05114-5
PMID
40404646
PMCID
PMC12098815
PubMedCentral® Posted Date
5-22-2025
PubMedCentral® Full Text Version
Post-print
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.
Keywords
Animals, Gorilla gorilla, Male, Telomere, Genome, Haplotypes, Endangered Species
Published Open-Access
yes
Recommended Citation
Nelson, David R; Muvunyi, Richard; Hazzouri, Khaled M; et al., "A Near Telomere-to-Telomere Phased Reference Assembly for the Male Mountain Gorilla" (2025). Faculty, Staff and Students Publications. 8191.
https://digitalcommons.library.tmc.edu/baylor_docs/8191