Generating eukaryotic reference genome assemblies: Earth BioGenome Project quality standards and recommendations
q-bio.GN
Submitted: 2026-10-02
Updated: 2026-10-02
Comments: Corresponding author: Kerstin Howe kj2@sanger.ac.uk
Code: https://github.com/Genoscope-LBGB/freq-motif-fastq
License: http://creativecommons.org/licenses/by/4.0/
The gist: Reference genome assemblies are foundational resources across the biological sciences as they begin to expose the fundamental building blocks of each species and the molecular toolkits vital for
Abstract
Reference genome assemblies are foundational resources across the biological sciences as they begin to expose the fundamental building blocks of each species and the molecular toolkits vital for adaptation and survival. High-quality genomes enable insights into evolution, facilitate ecosystem monitoring and protection and conservation of species, access to new biomaterials and biomedicine, advances in agri- and aquaculture, and support planetary health. The amount of information gathered from a species' genome assembly is directly dependent on its quality. However, different sequencing technologies and software solutions generate a wide range of quality outcomes. Here, the Earth BioGenome Project's Sequencing and Assembly committee, together with a large community of researchers performing eukaryote sequencing and assembly, outlines quality standards for a "reference" assembly and formulates recommendations to ensure these standards are met.
Sources
- Haplotype-based variant detection from short-read sequencing
- Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM
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