A near telomere-to-telomere phased reference assembly for the male mountain gorilla
David Roy NelsoniD, Richard MuvunyiiD, Khaled M. HazzouriiD, Jean-Claude Tumushime, Gaspard Nzayisenga, Julius NzizaiD, Wim MeertiD, Latifa Karim, Wouter R. CoppietersiD, Katherine M. MunsoniD, DongAhn YooiD, Evan E. EichleriD, Kourosh Salehi‐AshtianiiD, Jean‐Claude TwizereiD
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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