A near telomere-to-telomere phased reference assembly for the male mountain gorilla (Gorilla beringei beringei) - Pacbio HIFI reads

The critically 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 and Oxford Nanopore Ultralong data. The resulting assembly exhibits exceptional contiguity, with contig N50 of ~ 95 Mbps for the combined pseudohaplotype (3,540,458,497 bps, and 56.5 Mbps (3.1 Gbps) and 51.0 Mbps (3.2 Gbps) for the maternal and paternal haplotypes and an average QV of 65.15 (error rate = 3.1 x 10-7) and 0% switch errors detected. These represent substantial improvements over most other available primate genomes. This high-quality reference genome provides an invaluable resource for future studies on gorilla evolution, adaptation, and conservation, ultimately contributing to the long-term survival of this iconic species.

This read set is comprised of fastqs from Pacbio HIFI (3 runs).

A preprint for this work is available at bioRXiv, doi: https://doi.org/10.1101/2024.10.28.620258

极度濒危的山地大猩猩（Gorilla beringei beringei）的生存面临多重威胁，凸显了开发基因组资源以助力保护工作的迫切需求。本研究针对一只雄性山地大猩猩，利用Pacbio HiFi测序数据与牛津纳米孔（Oxford Nanopore）超长读长测序数据，构建了近乎端粒到端粒的单倍型分型参考基因组组装结果。该组装结果展现出极高的连续性：组合伪单倍型的重叠群N50（contig N50）约为95 Mb，总长度达3,540,458,497 bp；母本单倍型与父本单倍型的重叠群N50分别为56.5 Mb（总长度3.1 Gb）与51.0 Mb（总长度3.2 Gb），平均质量值（QV）为65.15（错误率为3.1×10^-7），且未检测到任何切换错误（switch errors）。该组装质量远超目前多数已公开的灵长类参考基因组。这一高质量参考基因组将为山地大猩猩的演化、适应性及保护相关的后续研究提供宝贵资源，最终助力这一标志性物种的长期存续。
本测序读段集包含3次Pacbio HiFi测序产出的FASTQ文件。
本研究的预印本已发布于bioRxiv，DOI为：https://doi.org/10.1101/2024.10.28.620258