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Chromosome-scale genome assembly and annotation of Octodon degus

    • 1 University of California San Diego;
    • 2 University of California Irvine;
    • 3 Institut de Biologia Evolutiva;
    • 4 New York Genome Center;
    • 5 University of Chile;
    • 6 Washington University School of Medicine;
    • 7 University of Chile, Fundación Ciencia & Vida, University of California Irvine;
    • 8 University of California San Diego, New York Genome Center, Columbia University Irving Medical Center
Published October 26, 2026. https://doi.org/10.1101/gr.281858.126
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cover of Genome Research Vol 36 Issue 10
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Abstract

High-quality reference genomes are essential for comparative and functional genomics yet remain unavailable for many emerging model organisms. Here, we report OctDeg2.0, a chromosome-level genome assembly and annotation of the degu (Octodon degus), generated using PacBio HiFi long-read sequencing and Hi-C scaffolding from a single male individual. Octodon degus is of growing interest as a natural animal model for aging and Alzheimer's disease research. The 3.4 billion base-pair assembly comprises 28 autosomes and both sex chromosomes, with markedly improved contiguity and completeness over the prior short-read assembly while maintaining high base accuracy. The new assembly provides substantially enhanced gene annotation, clearer resolution of chromatin architecture and cis-regulatory element landscapes, with much improved characterization of repetitive and structurally complex regions, including centromeres and segmental duplications. We present a streamlined and reproducible pipeline for high-resolution de novo genome assembly and gene annotation applicable to other emerging model organisms. This work establishes a robust genomic resource for studying molecular and cellular mechanisms in health and disease in Octodon degus.


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