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

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

SUBMITTER: Nelson DR 

PROVIDER: S-EPMC12098815 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature