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bioRxiv · 10.1101/2024.10.28.620258

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

Nelson, D. R.·Muvunyi, R.·Hazzouri, K. M.·Tumushime, J.-C.·Nzayisenga, G.·Nziza, J.·Meert, W.·Karim, L.·Coppieters, W.·Munson, K. M.·Yoo, D.·Eichler, E.·Salehi-Ashtiani, K.·Twizere, J.-C.
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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 (26.77x ave. coverage) and Oxford Nanopore Technologies (52.87x 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 x 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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Nelson, D. R., Muvunyi, R., Hazzouri, K. M., Tumushime, J.-C., Nzayisenga, G., Nziza, J., Meert, W., Karim, L., Coppieters, W., Munson, K. M., Yoo, D., Eichler, E., Salehi-Ashtiani, K., Twizere, J.-C.. 2024-10-31. A near telomere-to-telomere phased reference assembly for the male mountain gorilla. https://doi.org/10.1101/2024.10.28.620258

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