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雄性山地大猩猩的一个近乎端粒到端粒的分阶段参考基因组组装。

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

作者信息

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

机构信息

Laboratory of Algal, Synthetic, and Systems Biology, Division of Science and Math, New York University Abu Dhabi (NYUAD), Abu Dhabi, UAE.

Viral Interactomes Laboratory, GIGA Institute, University of Liege, Liege, Belgium.

出版信息

Sci Data. 2025 May 22;12(1):842. doi: 10.1038/s41597-025-05114-5.

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), 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.

摘要

濒危的山地大猩猩(Gorilla beringei beringei)面临着众多生存威胁,这凸显了迫切需要基因组资源来辅助保护工作。在此,我们展示了一个使用PacBio HiFi(平均覆盖度26.77×)和牛津纳米孔技术(平均覆盖度52.87×)数据生成的雄性山地大猩猩的近端粒到端粒、单倍型定相的参考基因组组装。所得的非支架组装显示出卓越的连续性,组合假单倍型(3,540,458,497 bp)的重叠群N50约为95 Mbp,每个单倍型分别为56.5 Mbp(3.1 Gbp)和51.0 Mbp(3.2 Gbp),平均QV为65.15(错误率 = 3.1 × 10),BUSCO评分为98.4%。这些相对于大多数其他可用的灵长类基因组有显著改进。这个首个高质量的山地大猩猩参考基因组为未来关于大猩猩进化、适应和保护的研究提供了宝贵资源,最终有助于这个标志性物种的长期生存。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fda9/12098815/457b4737635b/41597_2025_5114_Fig1_HTML.jpg

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