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bioRxiv preprint doi: https://doi.org/10.1101/2024.10.14.617638; this version posted October 17, 2024. The copyright holder for this preprint (which was not certified by peer review) is the author/funder,
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01
Collect high-quality DNA samples from the organism of interest.
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Prepare libraries for long-read sequencing using platforms like PacBio or Oxford Nanopore.
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Perform sequencing to generate long-read data that captures large genomic regions.
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Use bioinformatics tools to assemble the long reads into contiguous sequences, focusing on high-quality scaffolds.
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Incorporate optical mapping or Hi-C data to improve scaffold order and orientation.
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Annotate the genome using gene prediction tools and functional annotation for known genes.
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Validate the assembly with comprehensive quality checks against the reference genomes or using mapping metrics.

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Researchers studying genome evolution and structure.
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A chromosome-scale reference genome is a comprehensive and accurate representation of an organism's complete set of chromosomes, which serves as a standard for genetic research and analysis.
Researchers and organizations involved in genomic studies, as well as those submitting genomic data to databases or funding agencies, are often required to file a chromosome-scale reference genome.
To fill out a chromosome-scale reference genome, researchers typically need to provide genomic sequences, annotations, and associated metadata, following the specific guidelines set by the regulatory authorities or funding agencies.
The purpose of a chromosome-scale reference genome is to provide a high-quality baseline for understanding genetic variation, facilitating comparative genomics, and supporting research in fields such as medicine, agriculture, and evolutionary biology.
Key information that must be reported includes genome sequencing data, assembly methods, quality metrics, annotations for genes and regulatory elements, as well as information on the organism from which the genome was derived.
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